Paediatrics Flashcards
Which disease refers to infection of the lung tissue?
Pneumonia
What does pneumonia cause in the lung tissue?
Inflammation of the lung tissue
sputum fills the airways and the alveoli
What can pneumonia be seen as on a CXR?
consolidation
What can cause pneumonia?
Bacteria
–> Streptococcus pneumonia is most common
–> Group A strep (e.g. Streptococcus pyogenes)
–> Group B strep occurs in pre-vaccinated infants, often contracted during birth as it colonises the vagina.
–> Staphylococcus aureus. This causes typical chest xray findings of pneumatocoeles (round air-filled cavities) and consolidations in multiple lobes.
–> Haemophilus influenza mainly affects pre-vaccinated or unvaccinated children.
–> Mycoplasma pneumonia, an atypical bacteria with extra-pulmonary manifestations (e.g. erythema multiforme).
viruses
–> Respiratory syncytial virus (RSV) is the most common viral cause
–> Parainfluenza virus
–> Influenza virus
atypical bacteria
–> mycoplasma
What is the presentation of pneumonia?
Cough (typically wet and productive)
High fever (> 38.5ºC)
Tachypnoea
Tachycardia
Increased work on breathing
Lethargy
Delirium (acute confusion associated with infection)
What are the signs of pneumonia?
Tachypnoea (raised respiratory rate)
Tachycardia (raised heart rate)
Hypoxia (low oxygen)
Hypotension (shock)
Fever
Confusion
What is sepsis 6?
Three Tests:
Blood lactate level
Blood cultures
Urine output
Three Treatments:
Oxygen to maintain oxygen saturation 94-98% (or 88-92% in COPD)
Empirical broad-spectrum antibiotics
IV fluids
What are the three characteristic chest signs seen in pneumonia?
–> Bronchial breath sounds. These are harsh breath sounds that are equally loud on inspiration and expiration. These are caused by consolidation of the lung tissue around the airway.
–> Focal coarse crackles caused by air passing through sputum similar to using a straw to blow into a drink.
–> Dullness to percussion due to lung tissue collapse and/or consolidation.
What are the investigations for pneumonia?
–> CXR for diagnosis/ not routinely required
–> Sputum cultures and throat swabs for bacterial cultures/viral PCR
–> Blood cultures - sepsis
–> capillary blood gas analysis - monitor respiratory or metabolic acidosis and blood lactate levels in unwell patients
What is the management for pneumonia?
–> Amoxicillin is the first line
–> Add a macrolide (erythromycin, clarithromycin or azithromycin) will cover atypical pneumonia
–> macrolides can be used as a monotherapy in patients who are allergic to penicillin
–> IV abx when sepsis or intestinal absorption issue
–> oxygen to maintain sats above 92%
Which tests can be done for recurrent lower respiratory tract infections?
–> Full blood count to check levels of various white blood cells.
–> Chest x-ray to screen for any structural abnormality in the chest or scarring from the infections.
–> Serum immunoglobulins test for low levels of certain antibody classes indicating selective antibody deficiency.
–> Test immunoglobulin G to previous vaccines (i.e. pneumococcus and Haemophilus). Some patients are unable to convert IgM to IgG, and therefore cannot form long-term immunity to that bug. This is called an immunoglobulin class-switch recombination deficiency.
–> Sweat test to check for cystic fibrosis.
–> HIV test, especially if mum’s status is unknown or positive.
What is croup?
acute upper respiratory tract infection affecting young children - 6months to 2years
What does croup cause in the larynx?
URTI leads to oedema in the larynx
What are the causes of croup?
Parainfluenza virus
Influenza virus
Adenovirus
Respiratory Syncytial Virus (RSV)
–> diphtheria can leads to epiglottitis - rare as vaccination for this
What is the presentation of croup?
Increased work on breathing
“Barking” cough, occurring in clusters of coughing episodes
Hoarse voice
Stridor
Low-grade fever
What is the management of croup?
–> most cases self-limiting - supportive measures (fluids and rest) during attacks help the child to sit up and comfort them
–> Dexamethasone or pred alternative - single dose 150mcg/kg rpt after 12 hours
STEPWISE OPTIONS IN SEVERE CROUP TO GET CONTROL OF THE SYMPTOMS
–> Oral dexamethasone
–> Oxygen
–> Nebulised budesonide
–> Nebulised adrenalin
–> Intubation and ventilation
What is an acute exacerbation of asthma characterised by?
Rapid deterioration of symptoms of asthma
Give examples of what an acute exacerbation of asthma may be triggered by?
–> infection
–> exercise
–> cold weather
What is the presentation of an acute asthma exacerbation?
–> Progressively worsening shortness of breath
–> Signs of respiratory distress
–> Fast respiratory rate (tachypnoea)
–> Expiratory wheeze on auscultation heard throughout the chest
–> The chest can sound “tight” on auscultation, with reduced air entry
What is an ominous sign in asthma exacerbations?
A silent chest is an ominous sign. This is where the airways are so tight it is not possible for the child to move enough air through the airways to create a wheeze. This might be associated with reduced respiratory effort due to fatigue
How can the severity of acute exacerbations be graded?
MODERATE
- peak flow >50% predicted
- normal speech
- no other features
SEVERE
- peak flow <50% predicted
- saturations <92%
- unable to complete sentences in one breath
- signs of resp distress
- resp rate >40 in 1-5 years, >30 in >5years
- heart rate - >140 in 1-5 years and >125 in >5 years
LIFE-THREATENING
- peak flow <33% predicted
- saturations <92%
- exhaustion and poor resp effort
- hypotension
- silent chest
- cyanosis
- altered consciousness/confusion
What is the management of acute asthma exacerbations?
–> Supplementary oxygen if required (i.e. oxygen saturations less than 94% or working hard)
–> Bronchodilators (e.g. salbutamol, ipratropium and magnesium sulphate)
–> Steroids to reduce airway inflammation: prednisone (orally) or hydrocortisone (intravenous)
–> Antibiotics only if a bacterial cause is suspected (e.g. amoxicillin or erythromycin)
Describe the stepwise management ofacute asthma attack using bronchodilators?
–> oxygen
–> Inhaled or nebulised salbutamol (a beta-2 agonist)
–> oral corticosteroid
–> Inhaled or nebulised ipratropium bromide (an anti-muscarinic)
–> IV magnesium sulphate
–> IV aminophylline
How can mild cases of acute asthma exacerbations be treated
managed as an outpatient with regular salbutamol inhalers via a spacer (e.g. 4-6 puffs every 4 hours)
Describe the stepwise management of acute asthma exacerbations for moderate to severe cases
Salbutamol inhalers via a spacer device: starting with 10 puffs every 2 hours
Nebulisers with salbutamol / ipratropium bromide
Oral prednisone (e.g. 1mg per kg of body weight once a day for 3 days)
IV hydrocortisone
IV magnesium sulphate
IV salbutamol
IV aminophylline
intubation and ventilation
What should be monitored whilst a patient gets high doses of salbutamol and what are other side effects?
Consider monitoring the serum potassium when on high doses of salbutamol as it causes potassium to be absorbed from the blood into the cells.
It is also worth noting that salbutamol causes tachycardia and tremor.
What is asthma?
chronic inflammatory airway disease leading to variable airway obstruction in response to a stimulus and causing bronchoconstriction
What is the presentation suggestive of a diagnosis of asthma?
–> Episodic symptoms with intermittent exacerbations
–> Diurnal variability, typically worse at night and early morning
–> Dry cough with wheezing and shortness of breath
–> Typical triggers
–> A history of other atopic conditions such as eczema, hayfever and food allergies
–> Family history of asthma or atopy
–> Bilateral widespread “polyphonic” wheeze heard by a healthcare professional
–> Symptoms improve with bronchodilators
What presentation is suggestive of a non-asthma diagnosis?
–> Wheeze only related to coughs and colds, more suggestive of viral induced wheeze
–> Isolated or productive cough
–> Normal investigations
–> No response to treatment
–> Unilateral wheeze suggesting a focal lesion inhaled foreign body or infection
What are the typical triggers of asthma?
Dust (house dust mites)
Animals
Cold air
Exercise
Smoke
Food allergens (e.g. peanuts, shellfish or eggs)
How is a diagnosis of asthma made?
–> History and presentation
–> if diagnosis is likely can give a trial of treatment
–> Spirometry with reversibility testing (in children aged over 5 years)
–> Direct bronchial challenge test with histamine or methacholine
–> Fractional exhaled nitric oxide (FeNO)
–> Peak flow variability is measured by keeping a diary of peak flow measurements several times a day for 2 to 4 weeks
What is the stepwise management of asthma in under 5’s
1) Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required
2) Add a low dose corticosteroid inhaler or a leukotriene antagonist (i.e. oral montelukast)
3) Add the other option from step 2.
4) Refer to a specialist.
What is the stepwise management of asthma in 5-12 years?
1) Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required
2) Add a regular low-dose corticosteroid inhaler
3) Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response.
4) Titrate up the corticosteroid inhaler to a medium dose. Consider adding:
- Oral leukotriene receptor antagonist (e.g. montelukast)
- Oral theophylline
5) Increase the dose of the inhaled corticosteroid to a high dose.
6) Referral to a specialist. They may require daily oral steroids.
What is the stepwise management of asthma for over 12’s?
SAME AS ADULTS
1) Start a short-acting beta 2 agonist inhaler (e.g. salbutamol) as required
2) Add a regular low-dose corticosteroid inhaler
3) Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response.
4) Titrate up the corticosteroid inhaler to a medium dose. Consider a trial of an oral leukotriene receptor antagonist (i.e. montelukast), oral theophylline or an inhaled LAMA (i.e. tiotropium).
5) Titrate the inhaled corticosteroid up to a high dose. Combine additional treatments from step 4, including the option of an oral beta 2 agonist (i.e. oral salbutamol). Refer to a specialist.
6) Add oral steroids at the lowest dose possible to achieve good control under specialist guidance.
What is the MDI technique for inhalers without a spacer?
Remove the cap
Shake the inhaler (depending on the type)
Sit or stand up straight
Lift the chin slightly
Fully exhale
Make a tight seal around the inhaler between the lips
Take a steady breath in whilst pressing the canister
Continue breathing for 3 – 4 seconds after pressing the canister
Hold your breath for 10 seconds or as long as comfortably possible
Wait 30 seconds before giving a further dose
Rinse the mouth after using a steroid inhaler
What is the MDI technique with a spacer?
Assemble the spacer
Shake the inhaler (depending on the type)
Attach the inhaler to the correct end
Sit or stand up straight
Lift the chin slightly
Make a seal around the spacer mouthpiece or place the mask over the face
Spray the dose into the spacer
Take steady breaths in and out 5 times until the mist is fully inhaled
What is a viral-induced wheeze?
Viral-induced wheeze describes is an acute wheezy illness caused by a viral infection.
What is the pathophysiology of viral-induced wheeze?
Small children (typically under 3 years) have small airways. When these small airways encounter a virus (commonly RSV or rhinovirus) they develop a small amount of inflammation and oedema, swelling the walls of the airways and restricting the space for air to flow. This inflammation also triggers the smooth muscles of the airways to constrict, further narrowing the space in the airway.
What is the pathophysiology of viral-induced wheeze?
Small children (typically under 3 years) have small airways. When these small airways encounter a virus (commonly RSV or rhinovirus) they develop a small amount of inflammation and oedema, swelling the walls of the airways and restricting the space for air to flow. This inflammation also triggers the smooth muscles of the airways to constrict, further narrowing the space in the airway.
Air flowing through these narrow airways causes a wheeze, and the restricted ventilation leads to respiratory distress
How can you differentiate between asthma and a viral-induced wheeze?
–> Presenting before 3 years of age
–> No atopic history
–> Only occurs during viral infections
Asthma can also be triggered by viral or bacterial infections, however, it also has other triggers, such as exercise, cold weather, dust and strong emotions. Asthma is historically a clinical diagnosis, and the diagnosis is based on the presence of typical signs and symptoms along with variable and reversible airflow obstruction.
What is the presentation of a viral-induced wheeze?
Evidence of a viral illness (fever, cough and coryzal symptoms) for 1-2 days preceding the onset of:
Shortness of breath
Signs of respiratory distress
Expiratory wheeze throughout the chest
What does a focal wheeze suggest?
Inhaled foreign body or tumour or infection
What is the management of a viral-induced wheeze?
same as in acute exacerbation of asthma
What is bronchiolitis?
inflammation and infection of the bronchioles (small airways of the lungs)
What is bronchiolitis usually caused by?
RSV - respiratory syncytial virus
Why is a viral infection in adults less noticeable than in children?
Adults have larger airways so inflammation and mucus production doesn’t cause a problem whereas children have smaller airways to begin with.
in what age bracket does bronchiolitis occur in?
most common for children under 6 months but can occur in under 1’s
What is the presentation of bronchiolitis?
–> Coryzal symptoms - viral URTI signs - running and snotty nose, sneezing, mucus in the throat and watery eyes
–> Signs of respiratory distress
–> Dyspnoea - heavy laboured breathing
–> tachypnoea
–> poor feeding
–> mild fever under 39
–> apnoeas - episodes where the child stops breathing
–> wheeze and crackles on auscultation
What are the signs of respiratory distress?
Raised respiratory rate
Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles
Intercostal and subcostal recessions
Nasal flaring
Head bobbing
Tracheal tugging
Cyanosis (due to low oxygen saturation)
Abnormal airway noises
What is a wheeze?
–> Wheezing is a whistling sound caused by narrowed airways, typically heard during expiration
What is stridor?
–> Stridor is a high pitched inspiratory noise caused by obstruction of the upper airway, for example in croup
What is the typical course of bronchiolitis in children?
Bronchiolitis starts with URTI with coryzal symptoms/ half gets better spontaneously/the other half develops chest symptoms/ Sx last for 7 to 10 days/ children who have had bronchiolitis are more likely to have viral-induced wheeze during childhood.
What is the management of bronchiolitis?
–> Most require supportive management
–> Ensuring adequate intake - Depending on the severity, this could be done orally, via NG tube or IV fluids. It is important to avoid overfeeding as a full stomach will restrict breathing. Start with frequent small feeds and gradually increase them as tolerated.
–> Saline nasal drops and nasal suctioning can help clear nasal secretions, particularly prior to feeding
–> supplementary oxygen - of sats below 92%
–> Ventilatory support if required (CPAP or intubation and ventilation as the child gets tired)
How can you assess ventilation in children e.g severe rep distress?
–> Capillary blood gases
What are useful signs of poor ventilation from capillary blood gas?
–> Rising pCO2, showing that the airways have collapsed and can’t clear waste carbon dioxide.
–> Falling pH, showing that CO2 is building up and they are not able to buffer the acidosis this creates. This is respiratory acidosis. If they are also hypoxic, this is classed as type 2 respiratory failure.
What can be given to high-risk babies which target RSV?
–> Palivizumab - monoclonal antibody
–> monthly injection
–> Passive protection for high-risk - ex-premature or congenital heart disease
What is cystic fibrosis?
–> autosomal recessive genetic condition affecting the mucus glands, Mutation of the CFTR gene on chromosome 7, gene codes for chloride cellular channels
what are the key consequences of the cystic fibrosis mutation?
–> Thick pancreatic and biliary secretions that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract
–> Low volume thick airway secretions that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections
–> Congenital bilateral absence of the vas deferens in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate, resulting in male infertility
What is the presentation of cystic fibrosis?
–> Cystic fibrosis is screened for at birth with the newborn bloodspot test.
–> Meconium ileus is often the first sign of cystic fibrosis. should be black and should be passed within 24 hours of birth. In about 20% of babies with CF, the meconium is thick and sticky, causing it to get stuck and obstruct the bowel. This is called meconium ileus and is practically pathognomonic for cystic fibrosis. This presents as not passing meconium within 24 hours, abdominal distention and vomiting.
If cystic fibrosis is not diagnosed shortly after birth it can present later in childhood with typical signs and symptoms, recurrent lower respiratory tract infections, failure to thrive or pancreatitis.
what are the symptoms of CF?
Chronic cough
Thick sputum production
Recurrent respiratory tract infections
Loose, greasy stools (steatorrhoea) due to a lack of fat-digesting lipase enzymes
Abdominal pain and bloating
Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat
Poor weight and height gain (failure to thrive)
What are the signs of CF?
Low weight or height on growth charts
Nasal polyps
Finger clubbing
Crackles and wheezes on auscultation
Abdominal distension
what are the causes of clubbing in children?
–> Hereditary clubbing
–> Cyanotic heart disease
–> Infective endocarditis
–> Cystic fibrosis
–> Tuberculosis
–> Inflammatory bowel disease
–> Liver cirrhosis
What are the diagnostic tests for CF?
–> Newborn blood spot testing is performed on all children shortly after birth and picks up most cases
–> The sweat test is the gold standard for diagnosis
–> Genetic testing for the CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth
What are the key colonisers in the airways of CF patients?
–> Staph aureus - given prophylactic flucloxacillin to prevent staph
–> Pseudomonas - troublesome and worsens the prognosis of patients with CF, resistant to many types of abx, ciprofloxacin can be used
What is the management of CF?
–> Chest physiotherapy several times a day is essential to clear mucus and reduce the risk of infection and colonisation
–> Exercise improves respiratory function and reserve, and helps clear sputum
A high-calorie diet is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy
–> CREON tablets to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes)
–> Prophylactic flucloxacillin tablets to reduce the risk of bacterial infections (particularly staph aureus)
–> Treat chest infections when they occur
–> Bronchodilators such as salbutamol inhalers can help treat bronchoconstriction
–> Nebulised DNase (dornase alfa) is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear
–> Nebulised hypertonic saline
–> Vaccinations including pneumococcal, influenza and varicella
What is epiglottitis?
–> inflammation and swelling of the epiglottis and can swell to the point where airway is obstructed completely so if a life-threatening emergency
What is epiglottitis normally caused by?
Haemophilus influenza type B infection
What is the presentation of a child that suggests possible epiglottitis?
A patient presenting with a sore throat and stridor
Drooling
Tripod position sat forward with a hand on each knee
High fever
Difficulty or painful swallowing
Muffled voice
Scared and quiet child
Septic and unwell appearance
What is the presentation of a child that suggests possible epiglottitis?
A patient presenting with a sore throat and stridor
Drooling
Tripod position sat forward with a hand on each knee
High fever
Difficulty or painful swallowing
Muffled voice
A scared and quiet child
Septic and unwell appearance
What are the investigations for epiglottitis?
–> if acutely unwell then investigations should not be performed, performing lateral x-ray of neck can show thumb sign, X-rays good for ruling out foreign body
What is the management of epiglottitis?
–> important to not distress the patient - can cause prompt closure of the airway
–> Intubation preparation and secure the airway
–> once airways secure Iv abx (ceftriaxone) and steroids (dexamethasone) can be given
what is an atrial septal defect?
–> hole in the septum between the two atria
What is the pathophysiology of a atrial septal defects?
–> leads to a shunt between two atria
–> blood moves from the left atrium to the right atrium as high pressure in left
–> blood continues to flow into the pulmonary vessels and lungs to get oxygenetated and patient does not become cyanotic, but can lead to right heart strain and right heart failure and pulmonary hypertension
What is Eisenmenger syndrome?
–> Eventually pulmonary hypertension can lead to Eisenmengers syndrome
–> This is where pulmonary pressure is greater than systemic pressure
–> shunt reverses and forms a right to left shunt across the ASD, blood bypasses the lungs and the patient becomes cyanotic
What are the complications of an atrial septal defect
–> Stroke in the context of venous thromboembolism - clot travels to right side but can be shunted to left atrium
–> Atrial fibrillation or atrial flutter
–> Pulmonary hypertension and right-sided heart failure
–> Eisenmenger syndrome
What is the presentation of ASD’s?
–> causes a mid-systolic, crescendo-decrescendo murmur loudest in the upper left sternal border
–> may be asymptomatic
–> adults - dyspnoea, heart failure or stroke
–> Children - SOB, difficulty feeding, poor weight gain and LRTI
What is the management of ASD’s
–> Referral to a paediatric cardiologist
–> corrected surgically using transverse catheter closure or open heart surgery
–> anticoagulants are used to reduce the risk of clots and stroke in adults
What is a VSD?
congenital hole in the septum between the two ventricles
What are the underlying genetic conditions associated with VSDs?
–> Downs syndrome
–> Turners syndrome
What is the pathophysiology of VSD’s?
Due to the increased pressure in the left ventricle compared to the right, blood typically flows from left the right through the hole. Blood is still flowing around the lungs before entering the rest of the body, therefore they remain acyanotic (not cyanotic) because their blood is properly oxygenated. A left-to-right shunt leads to right-sided overload, right heart failure and increased flow into the pulmonary vessels.
The extra blood flowing through the right ventricle increases the pressure in the pulmonary vessels over time, causing pulmonary hypertension. If this continues, the pressure in the right side of the heart may become greater than the left, resulting in the blood being shunted from right to left and avoiding the lungs. When this happens the patient will become cyanotic because blood is bypassing the lungs. This is called Eisenmenger Syndrome.
What is the presentation of VSD?
–> initially asymptomatic - picked up on antenatal scans and murmurs on newborn baby checks
–> symptoms - poor feeding/ dyspnoea/ tachypnoea/ failure to thrive
What are the examination findings in patients with VSD’s?
–> pan systolic murmur heard at the lower left sternal border may be a systolic thrill on palpation
What are the other differentials for a pan-systolic murmur?
–> VSD
–> mitral regurgitation
–> tricuspid regurgitation
What is the treatment of a VSD?
Treatment should be coordinated by a paediatric cardiologist. Small VSDs with no symptoms or evidence of pulmonary hypertension or heart failure can be watched over time. Often they close spontaneously.
VSDs can be corrected surgically using a transvenous catheter closure via the femoral vein or open heart surgery.
There is an increased risk of infective endocarditis in patients with a VSD. Antibiotic prophylaxis should be considered during surgical procedures to reduce the risk of developing infective endocarditis.
What is a patent ductus arteriosus?
–>Ductus arteriosus normally stops functioning within 1-3 days of birth and closes completely within the first 2-3 weeks of life. when it fails to close its called patent ductus arteriosus
What is a risk factor for a patent ductus arteriosus?
–> prematurity
How can an asymptomatic patent ductus arteriosus be picked up in adult life?
signs of heart failure
What is the pathophysiology of a patent ductus arteriosus?
–> The pressure in the aorta is higher than that in the pulmonary vessels, so blood flows from the aorta to the pulmonary artery.
–> This creates a left-to-right shunt where blood from the left side of the heart crosses to the circulation from the right side.
–> This increases the pressure in the pulmonary vessels causing pulmonary hypertension, leading to right-sided heart strain as the right ventricle struggles to contract against the increased resistance.
–> Pulmonary hypertension and right-sided heart strain lead to right ventricular hypertrophy.
–> The increased blood flowing through the pulmonary vessels and returning to the left side of the heart leads to left ventricular hypertrophy.
What is the presentation of a patent ductus arteriosus?
A patent ductus arteriosus can be picked up during the newborn examination if a murmur - left upper chest continuous machine-like murmur is heard. It may also present with symptoms of:
Shortness of breath
Difficulty feeding
Poor weight gain
Lower respiratory tract infections
what type of murmur can be heard in a patent ductus arteriosus?
continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound, making the second heart sound difficult to hear.
How is the diagnosis of PDA made?
–> Echocardiogram - can also assess the hypertrophy effects on the heart
What is the management of PDA?
–> Patients are typically monitored until 1 year of age using echocardiograms. After 1 year of age, it is highly unlikely that the PDA will close spontaneously and trans-catheter or surgical closure can be performed. Symptomatic patients or those with evidence of heart failure as a result of PDA are treated earlier.
What is the coarctation of the aorta?
Coarctation of the aorta is a congenital condition where there is narrowing of the aortic arch
Which genetic condition is coarctation of the aorta associated with?
–> Turners syndrome
What is the pathophysiology of coarctation of the aorta
Narrowing of the aorta reduces the pressure of blood flowing to the arteries that are distal to the narrowing. It increases the pressure in areas proximal to the narrowing, such as the heart and the first three branches of the aorta.
What is the presentation of aortic coarctation?
Often the only indication of coarctation in a neonate may be weak femoral pulses. Performing a four-limb blood pressure will reveal high blood pressure in the limbs supplied from arteries that come before the narrowing, and lower blood pressure in limbs that come after the narrowing. There may be a systolic murmur heard below the left clavicle (left infraclavicular area) and below the left scapula. Coarctation may have other signs in infancy:
Tachypnoea and increased work of breathing
Poor feeding
Grey and floppy baby
Additional signs may develop over time:
Left ventricular heave due to left ventricular hypertrophy
Underdeveloped left arm where there is a reduced flow to the left subclavian artery
Underdevelopment of the legs
What is the management of aortic coarctation?
In cases of critical coarctation where there is a risk of heart failure and death shortly after birth Prostaglandin E is used to keep the ductus arteriosus open while waiting for surgery. This allows some blood to flow through the ductus arteriosus into the systemic circulation distal to the coarctation. Surgery is then performed to correct the coarctation and to ligate the ductus arteriosus.
What is the tetralogy of Fallot?
congenital condition with four coexisting pathologies:
–> VSD
–> Overriding aorta
–> pulmonary valve stenosis
–> right ventricular hypertrophy
What is the pathophysiology of the tetralogy of Fallot?
–> The VSD allows blood to flow between the ventricles. The term “overriding aorta” refers to the fact that the entrance to the aorta (the aortic valve) is placed further to the right than normal, above the VSD. This means that when the right ventricle contracts and sends blood upwards, the aorta is in the direction of travel of that blood, therefore a greater proportion of deoxygenated blood enters the aorta from the right side of the heart.
–> Stenosis of the pulmonary valve provides greater resistance against the flow of blood from the right ventricle. This encourages blood to flow through the VSD and into the aorta rather than taking the normal route into the pulmonary vessels. Therefore, the overriding aorta and pulmonary stenosis encourage blood to be shunted from the right heart to the left, causing cyanosis.
–> The increased strain on the muscular wall of the right ventricle, as it attempts to pump blood against the resistance of the left ventricle and pulmonary stenosis, causes right ventricular hypertrophy, with thickening of the heart muscle.
–> These cardiac abnormalities cause a right to left cardiac shunt. This means blood bypasses the child’s lungs. Blood bypassing the lungs does not become oxygenated. Deoxygenated blood entering the systemic circulation causes cyanosis. The degree to which this happens is related mostly to the severity of the patients pulmonary stenosis.
What are the risk factors of tetralogy of Fallot?
Rubella infection
Increased age of the mother (over 40 years)
Alcohol consumption in pregnancy
Diabetic mother
What are the investigations for the tetralogy of Fallot?
As with all structural congenital cardiac abnormalities, an echocardiogram is the investigation of choice for establishing the diagnosis. During the echocardiogram, the machine can produce coloured pictures that demonstrate the direction of flow of blood. This is called doppler flow studies. This is useful in assessing the severity of the abnormality and shunt.
A chest xray may show the characteristic “boot shaped” heart due to right ventricular thickening. This not particularly useful diagnostically except during medical exams.
What is the presentation of the tetralogy of Fallot?
Most cases are picked up before the child is born during the antenatal scans. Additionally, an ejection systolic murmur caused by pulmonary stenosis may be heard on the newborn baby check.
Severe cases will present with heart failure before one year of age. In milder cases, they can present as older children once they start to develop signs and symptoms of heart failure.
What are the signs and symptoms of tetralogy of Fallot?
–> Cyanosis (blue discolouration of the skin due to low oxygen saturations)
–> Clubbing
–> Poor feeding
–> Poor weight gain
–> Ejection systolic murmur heard loudest in the pulmonary area (second intercostal space, left sternal border) - pulmonary stenosis
–> “Tet spells”
What are tet spells in tetralogy of Fallot?
–> intermittent symptomatic periods where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episode.
–> This happens when the pulmonary vascular resistance increases or the systemic resistance decreases. For example, if the child is physically exerting themselves they are generating a lot of carbon dioxide. Carbon dioxide is a vasodilator that causes systemic vasodilation and therefore reduces systemic vascular resistance.
–> Blood flow will choose the path of least resistance, so blood will be pumped from the right ventricle to the aorta rather than the pulmonary vessels, bypassing the lungs.
These episodes may be precipitated by waking, physical exertion or crying. The child will become irritable, cyanotic and short of breath. Severe spells can lead to reduced consciousness, seizures and potentially death.
What are the treatment options for tet spells in tetralogy of Fallot?
Older children may squat when a tet spell occurs. Younger children can be positioned with their knees to their chests. Squatting increases systemic vascular resistance. This encourages blood to enter the pulmonary vessels.
potentially life-threatening.
–> Supplementary oxygen is essential in hypoxic children as hypoxia can be fatal.
–> Beta blockers can relax the right ventricle and improve flow to the pulmonary vessels.
–> IV fluids can increase pre-load, increasing the volume of blood flowing to the pulmonary vessels.
–> Morphine can decrease respiratory drive, resulting in more effective breathing.
–> Sodium bicarbonate can buffer any metabolic acidosis that occurs.
–> Phenylephrine infusion can increase systemic vascular resistance.
What is the management of the Tetralogy of Fallot?
In neonates, a prostaglandin infusion can be used to maintain the ductus arteriosus. This allows blood to flow from the aorta back to the pulmonary arteries.
Total surgical repair by open heart surgery is the definitive treatment, however, mortality from surgery is around 5%.
What is transposition of the great arteries?
Transposition of the great arteries is a condition where the attachments of the aorta and the pulmonary trunk to the heart are swapped (“transposed”). This means the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels. In this scenario are two separate circulations that don’t mix: one travelling through the systemic system and right side of the heart and the other travelling through the pulmonary system and left side of the heart.
Which conditions is transposition of the great arteries associated with?
Ventricular septal defect
Coarctation of the aorta
Pulmonary stenosis
What is the pathophysiology of the transposition of the great arteries?
During pregnancy, there is normal development of the fetus. The gas and nutrient exchange happens in the placenta, therefore it is not necessary for blood to flow to the lungs. After birth, the condition is immediately life-threatening as there is no connection between the systemic circulation and the pulmonary circulation. The baby will be cyanosed.
Immediate survival depends on a shunt between systemic circulation and pulmonary circulation that allows blood flowing through the body an opportunity to get oxygenated in the lungs. This shunt can occur across a patent ductus arteriosus, atrial septal defect or ventricular septal defect.
What is the presentation of the transposition of the great arteries?
The defect is often diagnosed during pregnancy with antenatal ultrasound scans. Close monitoring is necessary during the pregnancy and arrangements should be made so that the woman gives birth in a hospital capable of managing the condition after birth.
Where the defect was not detected during pregnancy it will present with cyanosis at or within a few days of birth. A patent ductus arteriosus or ventricular septal defect can initially compensate by allowing blood to mix between the systemic circulation and the lungs, however, within a few weeks of life they will develop respiratory distress, tachycardia, poor feeding, poor weight gain and sweating.
What is the management of the transposition of the great arteries?
Where there is a ventricular septal defect, this will allow some mixing of blood between the two systems and provide some time for definitive treatment.
A prostaglandin infusion can be used to maintain the ductus arteriosus. This allow blood from the aorta to flow to the pulmonary arteries for oxygenation.
Balloon septostomy involves inserting a catheter into the foramen ovale via the umbilicus, and inflating a balloon to create a large atrial septal defect. This allows blood returning from the lungs (on the left side) to flow to the right side of the heart and out through the aorta to the body.
Open heart surgery is the definitive management. A cardiopulmonary bypass machine is used to perform an “arterial switch” procedure within a few days of birth. If present, a VSD or ASD can be corrected at the same time.
What is the management of the transposition of the great arteries?
Where there is a ventricular septal defect, this will allow some mixing of blood between the two systems and provide some time for definitive treatment.
A prostaglandin infusion can be used to maintain the ductus arteriosus. This allows blood from the aorta to flow to the pulmonary arteries for oxygenation.
Balloon septostomy involves inserting a catheter into the foramen ovale via the umbilicus, and inflating a balloon to create a large atrial septal defect. This allows blood returning from the lungs (on the left side) to flow to the right side of the heart and out through the aorta to the body.
Open heart surgery is the definitive management. A cardiopulmonary bypass machine is used to perform an “arterial switch” procedure within a few days of birth. If present, a VSD or ASD can be corrected at the same time.
What are the differential diagnosis of cyanotic lesions (right –> left shunt)
Differential diagnoses of cyanotic lesions using the 6 ‘T’s are:
Tetralogy of Fallot
Transposition of great arteries
Truncus arteriosus
Total anomalous pulmonary venous connection
Tricuspid valve abnormalities
Ton of others – hypoplastic left heart, double outlet right ventricle, pulmonary atresia
What is rheumatic fever?
Rheumatic fever is a systemic inflammatory disorder. It arises as a complication following infection with group A Streptococcus, but unlike the initial infection, rheumatic fever is not contagious.
In whom does rheumatic fever normally occur?
between 5-15 years old
more girls affected then boys
What is the pathophysiology of rheumatic fever?
Rheumatic fever is caused by group A beta-haemolytic streptococcal, typically streptococcus pyogenes causing tonsillitis. The immune system creates antibodies to fight the infection. These antibodies not only target the bacteria, but also match antigens on the cells of the person’s body, for example the muscle cells in the myocardium in the heart.
This results in a type 2 hypersensitivity reaction, where the immune system begins attacking cells throughout the body. This process is usually delayed 2 – 4 weeks after the initial infection.
What is the presentation of rheumatic fever?
The typical presentation of rheumatic fever occurs 2 – 4 weeks following a streptococcal infection, such as tonsillitis. Symptoms affect multiple systems, causing:
–> Fever
–> Joint pain
–> Rash
–> Shortness of breath
–> Chorea
–> Nodules
JOINTS –> migratory arthritis in large joint, hot swollen and painful joints
HEART –> Carditis, or inflammation throughout the heart, with pericarditis, myocarditis and endocarditis, leads to –> Tachycardia or bradycardia/Murmurs from valvular heart disease, typically mitral valve disease/ Pericardial rub on auscultation/Heart failure
SKIN–> subcutaneous nodules and erythema marginatum rash
NERVOUS SYSTEM –> Chorea - key nervous system symptoms - irregular uncontrolled and rapid movements of limbs
what are the investigations for rheumatic fever?
Investigations that can help support the diagnosis include:
–> Throat swab for bacterial culture
–> ASO (antistreptococcal antibodies) antibody titres
–> Echocardiogram, ECG and chest x-ray can assess the heart involvement
–> A diagnosis of rheumatic fever is made using the Jones criteria.
What criteria is used to diagnose rheumatic fever?
Jones criteria
What is the Jones criteria?
A diagnosis of rheumatic fever can be made when there is evidence of recent streptococcal infection, plus:
Two major criteria OR
One major criteria plus two minor criteria
The mnemonic for the Jones criteria is JONES – FEAR.
Major Criteria:
J – Joint arthritis
O – Organ inflammation, such as carditis
N – Nodules
E – Erythema marginatum rash
S – Sydenham Chorea
Minor Criteria:
F - fever
E - ECG Changes (prolonged PR interval) without carditis
A - Arthralgia without arthritis
R - Raised inflammatory markers (CRP and ESR)
What is the management of rheumatic fever?
Treatment of streptococcal infections with antibiotics helps prevent the development of rheumatic fever. Tonsillitis caused by streptococcus should be treated with phenoxymethylpenicillin (penicillin V) for 10 days.
Patients with clinical features of rheumatic fever should be referred immediately for specialist management. Management involves medications and follow-up:
NSAIDs (e.g. ibuprofen) are helpful for treating joint pain
Aspirin and steroids are used to treat carditis
Prophylactic antibiotics (oral or intramuscular penicillin) are used to prevent further streptococcal infections and recurrence of the rheumatic fever. These are continued into adulthood.
Monitoring and management of complications
What are the complications of rheumatic fever?
–> Recurrence of rheumatic fever
–> Valvular heart disease, most notably mitral stenosis
–> Chronic heart failure
What is infective endocarditis?
Infective endocarditis refers to infection of the endothelium (the inner surface) of the heart. Most commonly, it affects the heart valves. It can be acute, subacute or chronic, depending on how rapidly and acutely the symptoms present and the causative organism.
What are the risk factors for endocarditis?
The risk factors for infective endocarditis are:
–> Intravenous drug use
–> Structural heart pathology (see below)
–> Chronic kidney disease (particularly on dialysis)
–> Immunocompromised (e.g., cancer, HIV or immunosuppressive medications)
–> History of infective endocarditis
Structural pathology can increase the risk of endocarditis:
–> Valvular heart disease
–> Congenital heart disease
–> Hypertrophic cardiomyopathy
–> Prosthetic heart valves
–> Implantable cardiac devices (e.g., pacemakers)
What are the causes of infective endocarditis?
The most common cause is Staphylococcus aureus.
Other causes include:
Streptococcus (notably the viridans group of streptococci)
Enterococcus (e.g., Enterococcus faecalis)
Rarer causes include Pseudomonas, HACEK organisms and fungi
What is the presentation of infective endocarditis?
The presenting symptoms are non-specific for an infection:
Fever
Fatigue
Night sweats
Muscle aches
Anorexia (loss of appetite)
The key examination findings are:
New or “changing” heart murmur
Splinter haemorrhages (thin red-brown lines along the fingernails)
Petechiae (small non-blanching red/brown spots) on the trunk, limbs, oral mucosa or conjunctiva
Janeway lesions (painless red flat macules on the palms of the hands and soles of the feet)
Osler’s nodes (tender red/purple nodules on the pads of the fingers and toes)
Roth spots (haemorrhages on the retina seen during fundoscopy)
Splenomegaly (in longstanding disease)
Finger clubbing (in longstanding disease)
What are the investigations for infective endocarditis?
Blood cultures are essential before starting antibiotics. Three blood culture samples are recommended, usually separated by at least 6 hours and taken from different sites. The gap between repeated sets may have to be shorter if antibiotics are required more urgently (e.g., sepsis).
Echocardiography is the usual imaging investigation. Transoesophageal echocardiography (TOE) is more sensitive and specific than transthoracic echocardiography. Vegetations (an abnormal mass or collection) may be seen on the valves.
Special imaging investigations may be used in patients with prosthetic heart valves, where it can be more challenging to determine whether an infection is present in the prosthesis: 18F-FDG PET/CT - SPECT-CT
modified Dukes criteria
Which criteria can be used to diagnose infective endocarditis?
Modified Dukes criteria
What is the modified Dukes criteria?
The Modified Duke criteria can be used to diagnose infective endocarditis. A diagnosis requires either:
One major plus three minor criteria
Five minor criteria
Major criteria are:
Persistently positive blood cultures (typical bacteria on multiple cultures)
Specific imaging findings (e.g., a vegetation seen on the echocardiogram)
Minor criteria are:
Predisposition (e.g., IV drug use or heart valve pathology)
Fever above 38°C
Vascular phenomena (e.g., splenic infarction, intracranial haemorrhage and Janeway lesions)
Immunological phenomena (e.g., Osler’s nodes, Roth spots and glomerulonephritis)
Microbiological phenomena (e.g., positive cultures not qualifying as a major criterion)
What is the modified Dukes criteria?
The Modified Duke criteria can be used to diagnose infective endocarditis. A diagnosis requires either:
One major plus three minor criteria
Five minor criteria
Major criteria are:
Persistently positive blood cultures (typical bacteria on multiple cultures)
Specific imaging findings (e.g., a vegetation seen on the echocardiogram)
Minor criteria are:
Predisposition (e.g., IV drug use or heart valve pathology)
Fever above 38°C
Vascular phenomena (e.g., splenic infarction, intracranial haemorrhage and Janeway lesions)
Immunological phenomena (e.g., Osler’s nodes, Roth spots and glomerulonephritis)
Microbiological phenomena (e.g., positive cultures not qualifying as a major criterion)
What is the management of infective endocarditis?
Intravenous broad-spectrum antibiotics (e.g., amoxicillin and optional gentamicin) are the mainstay of treatment. The choice of antibiotic may be more specific once the causative organism is identified on cultures. Antibiotics are typically continued for at least:
4 weeks for with native heart valves
6 weeks for patients with prosthetic heart valves
Surgery may be required for:
Heart failure relating to valve pathology
Large vegetation or abscesses
Infections not responding to antibiotics
What are the complications of infective endocarditis?
Heart valve damage, causing regurgitation
Heart failure
Infective and non-infective emboli (causing abscesses, strokes and splenic infarction)
Glomerulonephritis, causing renal impairment
In patients who are at high risk of infective endocarditis, what is the advice?
good oral health to reduce the risk of IE, streptococcus viridans
What is GORD?
Gastro-oesophageal reflux is where contents from the stomach reflux through the lower oesophageal sphincter into the oesophagus, throat and mouth
Why are babies more susceptible to GORD?
In babies there is immaturity of the lower oesophageal sphincter, allowing stomach contents to easily reflux into the oesophagus. It is normal for a baby to reflux feeds, and provided there is normal growth and the baby is otherwise well this is not a problem, however, it can be upsetting for parents.
What is the presentation of GORD in babies?
It is normal for babies to have some reflux after larger feeds. It becomes more troublesome when this causes them to become distressed. Signs of problematic reflux include:
Chronic cough
Hoarse cry
Distress, crying or unsettled after feeding
Reluctance to feed
Pneumonia
Poor weight gain
Children over one year may experience similar symptoms to adults, with heartburn, acid regurgitation, retrosternal or epigastric pain, bloating and nocturnal cough
What are some possible causes of vomiting in children?
Vomiting is very non-specific and is often not indicative of underlying pathology. Some of the possible causes of vomiting include:
–> Overfeeding
–> Gastro-oesophageal reflux
–> Pyloric stenosis (projective vomiting)
–> Gastritis or gastroenteritis
–> Appendicitis
–> Infections such as UTI, tonsillitis or meningitis
–> Intestinal obstruction
–> Bulimia
What are the red flags for vomiting in children?
–> Not keeping down any feed (pyloric stenosis or intestinal obstruction)
–> Projectile or forceful vomiting (pyloric stenosis or intestinal obstruction)
–> Bile-stained vomit (intestinal obstruction)
–> Haematemesis or melaena (peptic ulcer, oesophagitis or varices)
–> Abdominal distention (intestinal obstruction)
–> Reduced consciousness, bulging fontanelle or neurological signs (meningitis or raised intracranial pressure)
–> Respiratory symptoms (aspiration and infection)
–> Blood in the stools (gastroenteritis or cows milk protein allergy)
–> Signs of infection (pneumonia, UTI, tonsillitis, otitis or meningitis)
–> Rash, angioedema and other signs of allergy (cows milk protein allergy)
–> Apnoeas are a concerning feature and may indicate serious underlying pathology and need urgent assessment
What is the management of GORD in babies?
In simple cases, some explanation, reassurance and practical advice is all that is needed. Advise:
Small, frequent meals
Burping regularly to help milk settle
Not over-feeding
Keep the baby upright after feeding (i.e. not lying flat)
More problematic cases can justify treatment with
Gaviscon mixed with feeds
Thickened milk or formula (specific anti-reflux formulas are available)
Proton pump inhibitors (e.g., omeprazole) where other methods are inadequate
Rarely in severe cases, they may need further investigation with a barium meal and endoscopy. Surgical fundoplication can be considered in very severe cases, however this is very rarely required or performed.
What is the pathophysiology of pyloric stenosis?
The pyloric sphincter is a ring of smooth muscle that forms the canal between the stomach and the duodenum. Hypertrophy (thickening) and therefore narrowing of the pylorus is called pyloric stenosis. This prevents food from travelling from the stomach to the duodenum as normal.
After feeding, there is increasingly powerful peristalsis in the stomach as it tries to push food into the duodenum. Eventually, it becomes so powerful that it ejects the food into the oesophagus, out of the mouth and across the room. This is called “projectile vomiting”.
What are the features of pyloric stenosis?
Pyloric stenosis typically presents in the first few weeks of life, with a hungry baby that is thin, pale and generally failing to thrive. The classic description of vomiting you should remember for your exams is “projectile vomiting”.
If examined after feeding, often the peristalsis can be seen by observing the abdomen. A firm, round mass can be felt in the upper abdomen that “feels like a large olive”. This is caused by the hypertrophic muscle of the pylorus.
Blood gas analysis will show a hypochloric (low chloride) metabolic alkalosis as the baby is vomiting the hydrochloric acid from the stomach. This is a common data interpretation question in exams, so worth remembering.
How can pyloric stenosis be diagnosed?
–> diagnosis is made using an abdominal ultrasound to visualise the thickened pylorus
What is the treatment of pyloric stenosis?
Treatment involves a laparoscopic pyloromyotomy (known as “Ramstedt’s operation“). An incision is made in the smooth muscle of the pylorus to widen the canal allowing that food to pass from the stomach to the duodenum as normal. Prognosis is excellent following the operation.
if there is no significant underlying cause for constipation what can it be described as?
–> idiopathic constipation or functional constipation
Give examples of secondary causes of constipation
–> Hirschsprung’s disease, CF (meconium ileus), hypothyroidism, spinal cord lesions, sexual abuse, intestinal obstruction, anal stenosis and cows milk intolerance
What is the presentation of constipation?
Typical features in the history and examination that suggest constipation are:
Less than 3 stools a week
Hard stools that are difficult to pass
Rabbit dropping stools
Straining and painful passages of stools
Abdominal pain
Holding an abnormal posture, referred to as retentive posturing
Rectal bleeding associated with hard stools
Faecal impaction causing overflow soiling, with incontinence of particularly loose smelly stools
Hard stools may be palpable in abdomen
Loss of the sensation of the need to open the bowels
Whats encopresis?
Encopresis is the term for faecal incontinence. This is not considered pathological until 4 years of age. It is usually a sign of chronic constipation where the rectum becomes stretched and loses sensation. Large hard stools remain in the rectum and only loose stools are able to bypass the blockage and leak out, causing soiling.
What are some lifestyle factors that can contribute to the development of constipation?
Habitually not opening the bowels
Low fibre diet
Poor fluid intake and dehydration
Sedentary lifestyle
Psychosocial problems such as a difficult home or school environment (always keep safeguarding in mind)
Why can rectum desensitisation occur in constipation?
Often patients develop a habit of not opening their bowels when they need to and ignoring the sensation of a full rectum. Over time they loose the sensation of needing to open their bowels, and they open their bowels even less frequently. They start to retain faeces in their rectum. This leads to faecal impaction, which is where a large, hard stool blocks the rectum. Over time the rectum stretches as it fills with more and more faeces. This leads to further desensitisation of the rectum. The longer this goes on, the more difficult it is to treat the constipation and reverse the problem.
What are the red flags of constipation?
–> Not passing meconium - within 48 hours of birth (cystic fibrosis or Hirschprungs disease)
–> neurological signs or symptoms - particularly in the lower limbs (cerebral palsy or spinal cord lesion)
–> vomiting - intestinal obstruction or Hirschprungs disease)
–> Ribbon stool (anal stenosis)
–> abnormal anus (anal stenosis/ IBD or sexual abuse)
–> abnormal lower back or buttocks (spina, bifida, spinal cord lesion or sacral agenesis)
–> failure to thrive (coeliac disease, hypothyroidism or safeguarding)
–> acute severe abdominal pain and bloating (obstruction or intussusception)
What are the complications of constipation?
Pain
reduced sensation
anal fissures
haemorrhoids
overflow and soiling
psychosocial morbidity
What is the management of constipation?
–> Correct any reversible contributing factors, recommend a high-fibre diet and good hydration
–>Start laxatives (movicol is first line)
–> Faecal impaction may require a disimpaction regimen with high doses of laxatives at first
–> Encourage and praise visiting the toilet. This could involve scheduling visits, a bowel diary and star charts.
–> Laxatives should be continued long term and slowly weaned off as the child develops a normal, regular bowel habit.
What is the pathophysiology of appendicitis?
–> Inflammation of the appendix
–> due to obstruction at the point where the appendix meets the bowel from caecum
–> can quickly progress into gangrene and rupture
–> can release faecal contents and infective material into the abdomen which leads to peritonitis - inflammation of the peritoneal contents
–> peak incidence of appendicitis is between 10 and 20
What are the signs and symptoms of appendicitis?
–> Central abdominal pain that moves down to the right iliac fossa
–> on palpation of abdomen there is tenderness in McBurney’s point - one-third of the distance from the ASIS to the umbilicus
–> Loss of appetite
–> Nausea and vomiting
–> Rosvings sign - palpation of the left iliac fossa causes pain in the RIF
–> Guarding on abdominal palpation
–> Rebound tenderness - increased pain when quickly releasing pressure on the right iliac fossa
–> Percussion tenderness is pain and tenderness when percussing the abdomen
REBOUND TENDERNESS AND PERCUSSION TENDERNESS SUGGESTS PERITONITIS, CAUSED BY A RUPTURED APPENDIX
How is the diagnosis of appendicitis made?
–> Based on the clinical presentation and raised inflammatory markers
–> CT scan can be useful if the diagnosis is not clear and an ultrasound for women to exclude ovarian and gynae pathology
–> if clinical presentation suggests appendicitis but investigations are negative then perform diagnostic laparoscopy to visualise appendix and perform appendicectomy if required
What are some key differential diagnosis of appendicitis?
Ectopic Pregnancy
Consider ectopic pregnancy in girls of childbearing age. This is a gynaecological emergency with relatively high mortality if mismanaged. A serum or urine bHCG (pregnancy test) to exclude pregnancy is essential in adolescent girls.
Ovarian Cysts
Ovarian cysts can cause pelvic and iliac fossa pain, particularly with rupture or torsion.
Meckel’s Diverticulum
Meckel’s diverticulum is a malformation of the distal ileum that occurs in around 2% of the population. It is usually asymptomatic, however it can bleed, become inflamed, rupture or cause a volvulus or intussusception. They are often removed prophylactically if identified incidentally during other abdominal operations.
Mesenteric Adenitis
Mesenteric adenitis describes inflamed abdominal lymph nodes. This presents with abdominal pain, usually in younger children. This is often associated with tonsillitis or an upper respiratory tract infection. No specific treatment is required.
Appendix Mass
An appendix mass occurs when the omentum surrounds and sticks to the inflamed appendix, forming a mass in the right iliac fossa. This is typically managed conservatively with supportive treatment and antibiotics, followed by appendicectomy once the acute condition has resolved.
What is the management of appendicitis?
–> removal of the inflamed appendix (appendicectomy) - laparoscopic surgery is associated with fewer risk and faster recovery (laparotomy)
What are the complications of appendicetomies?
Bleeding, infection, pain and scars
Damage to the bowel, bladder or other organs
Removal of a normal appendix
Anaesthetic risks
Venous thromboembolism (deep vein thrombosis or pulmonary embolism)
What is inflammatory bowel disease an umbrella term for?
Ulcerative colitis
Chrons disease
both involve inflammation of the walls in the GI tract and have periods of remission and exacerbations
What are the features of Crohn’s disease?
Crohn’s (crows NESTS)
N – No blood or mucus (these are less common in Crohn’s.)
E – Entire GI tract
S – “Skip lesions” on endoscopy
T – Terminal ileum most affected and Transmural (full thickness) inflammation
S – Smoking is a risk factor (don’t set the nest on fire)
Crohn’s is also associated with weight loss, strictures and fistulas.
What are the features of UC?
C – Continuous inflammation
L – Limited to colon and rectum
O – Only superficial mucosa affected
S – Smoking is protective
E – Excrete blood and mucus
U – Use aminosalicylates
P – Primary sclerosing cholangitis
What is the presentation of inflammatory bowel disease?
Suspect inflammatory bowel disease in children and teenagers presenting with perfuse diarrhoea, abdominal pain, bleeding, weight loss or anaemia. They may be systemically unwell during flares, with fevers, malaise and dehydration
What are the extra-intestinal manifestations of inflammatory bowel disease?
Finger clubbing
Erythema nodosum
Pyoderma gangrenosum
Episcleritis and iritis
Inflammatory arthritis
Primary sclerosing cholangitis (ulcerative colitis)
How can you test for inflammatory bowel disease?
Blood tests for anaemia, infection, thyroid, kidney and liver function. A raised CRP indicates active inflammation.
Faecal calprotectin is released by the intestines when inflamed. It is a useful screening test and is more than 90% sensitive and specific for IBD in adults.
Endoscopy (OGD and colonoscopy) with biopsy is the gold standard investigation for diagnosis of IBD.
Imaging with ultrasound, CT and MRI can be used to look for complications such as fistulas, abscesses and strictures
What is the management of Crohn’s disease?
Inducing Remission
First line are steroids (e.g. oral prednisolone or IV hydrocortisone).
If steroids alone don’t work, consider adding immunosuppressant medication under specialist guidance:
Azathioprine
Mercaptopurine
Methotrexate
Infliximab
Adalimumab
Maintaining Remission
Treatment is tailored to individual patients based on risks, side effects, nature of the disease and patient preference. It is reasonable not to take any medications whilst well.
First line:
Azathioprine
Mercaptopurine
Alternatives:
Methotrexate
Infliximab
Adalimumab
When the disease only affects the distal ileum it is possible to surgically resect this area to prevent further flares. Crohn’s typically involves the entire GI tract. Surgery can also be used to treat strictures and fistulas secondary to Crohn’s disease.
What is the management of Ulcerative colitis?
Inducing Remission
Mild to moderate disease
First line: aminosalicylate (e.g. mesalazine oral or rectal)
Second line: corticosteroids (e.g. prednisolone)
Severe disease
First line: IV corticosteroids (e.g. hydrocortisone)
Second line: IV ciclosporin
Maintaining Remission
Aminosalicylate (e.g. mesalazine oral or rectal)
Azathioprine
Mercaptopurine
Surgery
Ulcerative colitis usually only affects the colon and rectum. Therefore, removing the colon and rectum (panproctocolectomy) will remove the disease. The patient is then left with either a permanent ileostomy or something called an ileo-anal anastomosis (J-pouch). This is where the ileum is folded back on itself and fashioned into a larger pouch that functions like a rectum. This “J-pouch” is then attached to the anus and collects stools prior to the person passing a motion.
What is the pathophysiology of coeliac disease?
Coeliac disease is an autoimmune condition where exposure to gluten causes an immune reaction that creates inflammation in the small intestine. It usually develops in early childhood but can start at any age.
In coeliac disease, autoantibodies are created in response to exposure to gluten. These autoantibodies target the epithelial cells of the intestine and lead to inflammation. There are two antibodies to remember: anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA). These antibodies correlate with disease activity and will rise with more active disease and may disappear with effective treatment.
Inflammation affects the small bowel, particularly the jejunum. It causes atrophy of the intestinal villi. The intestinal cells have villi on them that help with absorbing nutrients from the food passing through the intestine. The inflammation causes malabsorption of nutrients and disease-related symptoms.
What is the presentation of coeliac disease?
Coeliac disease is often asymptomatic, so have a low threshold for testing for coeliac disease in patients where it is suspected. Symptoms can include:
–> Failure to thrive in young children
–> Diarrhoea
–> Fatigue
–> Weight loss
–> Mouth ulcers
–> Anaemia secondary to iron, B12 or folate deficiency
–> Dermatitis herpetiformis is an itchy blistering skin rash that typically appears on the abdomen
Rarely coeliac disease can present with neurological symptoms:
–> Peripheral neuropathy
–> Cerebellar ataxia
–> Epilepsy
Patients diagnosed with type 1 Diabetes should also be tested for what and why?
Coeliac disease as they are often linked
What are the genetic associations of Coeliac disease?
HLA-DQ2 gene (90%)
HLA-DQ8 gene
what are the investigations for Coeliac disease?
Investigations must be carried out whilst the patient remains on a diet containing gluten otherwise it may not be possible to detect the antibodies or inflammation in the bowel.
Check total immunoglobulin A levels to exclude IgA deficiency before checking for coeliac disease-specific antibodies:
Raised anti-TTG antibodies (first choice)
Raised anti-endomysial antibodies - anti EMA
Endoscopy and intestinal biopsy show:
“Crypt hypertrophy”
“Villous atrophy”
Which conditions are associated with coeliac disease?
Type 1 diabetes
Thyroid disease
Autoimmune hepatitis
Primary biliary cirrhosis
Primary sclerosing cholangitis
Down’s syndrome
What are the complications of untreated coeliac disease?
Vitamin deficiency
Anaemia
Osteoporosis
Ulcerative jejunitis
Enteropathy-associated T-cell lymphoma (EATL) of the intestine
Non-Hodgkin lymphoma (NHL)
Small bowel adenocarcinoma (rare)
What is the treatment of coeliac disease?
A lifelong gluten-free diet is essentially curative. Relapse will occur upon consuming gluten again. Checking coeliac antibodies can be helpful in monitoring the disease.
What is Hirshsprung’s disease?
–> Congenital condition where the nerve cells of the myenteric plexus are absent in the distant bowel and rectum
–> Myenteric plexus (Auerbach’s plexus) forms the enteric nervous which is responsible for peristalsis
What is the myenteric plexus?
Part of the enteric nervous system and is responsible fo peristalsis of the large bowel
What is the pathophysiology of Hirshprungs disease?
–> absence of the parasympathetic ganglion cells
–> During fetal development these cells start higher in the GI tract and migrate down to the distal colon and rectum
–> Parasympathetic ganglion cells in the myenteric plexus do not migrate all the way down
–> When the total colon is affected it’s called total colonic aganglionosis. The aganglionic section of the colon does not relax and causes contraction and obstruction
What are the risk factors of Hirschprung’s disease?
Family history
downs syndrome
Which diseases is Hirshprung’s disease associated with?
Downs syndrome
Neurofibromatosis
Waardenburg syndrome (a genetic condition causing pale blue eyes, hearing loss and patches of white skin and hair)
Multiple endocrine neoplasia type II
What is the presentation of Hirsphrung’s disease?
The severity of the presentation and the age at diagnosis varies significantly depending on the individual and the extent of the bowel that is affected. It can present with acute intestinal obstruction shortly after birth or more gradually developing symptoms:
Delay in passing meconium (more than 24 hours)
Chronic constipation since birth
Abdominal pain and distention
Vomiting
Poor weight gain and failure to thrive
What is Hirshprung - associated enterocolitis?
—> Inflammation and obstruction of the intestine occurring in 20% of neonates with Hirschsprung’s disease
–> presents within 2-4 weeks with fever, abdominal distention, diarrhoea often with blood and features of sepsis
–> life-threatening and can lead to toxic megacolon and perforation of the bowel
–> requires urgent antibiotics, fluid resuscitation and decompression of the obstructed bowel
What is the management of Hirsphrung’s disease?
–> Abdominal X-ray can be helpful in diagnoses of intestinal obstruction
–> Rectal biopsy - used to confirm the diagnosis, bowel histology will demonstrate an absence of ganglionic cells
–> Unwell children with HAEC will require initial fluid resus and management of intestinal obstruction. IV abx are required with HAEC
–> Definite management is the surgical removal of the aganglionic section of the bowel
What is intussusception and pathophysiology
–> Condition where the bowel invaginates into itself, this thickens the overall size of the bowel and narrows the lumen at the folded area
–> leads to a palpable mass in the abdomen and obstruction to the passage of faeces through the bowel
In whom is intussusception most common in?
infants between 6 months and 2 years and is more common in boys
Which conditions are associated with intussusception
Concurrent viral illness
Henoch-Schonlein purpura
Cystic fibrosis
Intestinal polyps
Meckel diverticulum
What is the presentation of intussusception?
Severe, colicky abdominal pain
Pale, lethargic and unwell child
“Redcurrant jelly stool”
Right upper quadrant mass on palpation. This is described as “sausage-shaped”
Vomiting
Intestinal obstruction
How is the diagnosis of intussusception made?
–> USS or contrast enema
How is intussusception managed?
Therapeutic enemas can be used to try to reduce the intussusception. Contrast, water or air are pumped into the colon to force the folded bowel out of the bowel and into the normal position.
Surgical reduction may be necessary if enemas do not work.
If the bowel becomes gangrenous (due to a disruption of the blood supply) or the bowel is perforated, then surgical resection is required.
What are the complications of intussusception?
Obstruction
Gangrenous bowel
Perforation
Death
What is bililary atresia?
–> Congenital condition in which a section of the bile duct is either narrowed or absent.
What is the patho of biliary atresia?
–> Absent or narrowed bile duct results in cholestasis
–> Bile cannot be transported from the liver to the bowel
–> Conjugated bilirubin is excreted in the bile so prevents excretion
What is the presentation of biliary atresia?
–> presents after birth with significant jaundice due to high conjugated bilirubin levels.
–> Persistent jaundice lasting more than 14 days in term babies and more than 21 days in premature babies
–> Jaundice associated with pale stools and dark urine due to biliary obstruction
–> some infants may develop bruising due to Vit K deficiency
What are the investigations for biliary atresia?
–> investigate the levels of conjugated and unconjugated bilirubin - LFT’s and raised GGT
–> a high proportion of conjugated bilirubin suggests that the liver is processing the bilirubin for excretion bi conjugating it but is not able to excrete it.
–> New-born blood spot test - to rule of CF
–> USS first line imaging
–> percutaneous liver biopsy - diagnostic
–> gold standard operative cholangiography - only if diagnosis uncertainty
Give an example of another benign cause of jaundice
breast milk jaundice
What is the management of biliary atresia?
- early surgical treatment - within 45 days to avoid liver transplantation
- kasai portoenterostomy - removing damaged bile ducts and replacing them with a loop of intestine to allow bile to follow into the bowel
- liver transplant may be required if portoenterostomy fails
- antibiotic prophylaxis for a year to prevent cholangitis
What are the complications of biliary atresia?
- ascending cholangitis
- portal hypertension
- cirrhosis which can lead to HCC
What is acute gastritis?
Inflammation of the stomach
What does acute gastritis present with?
nausea and vomiting
What does enteritis mean?
inflammation of the intetines
What does enteritis present with
diarrhoea
What is gastroenteritis?
inflammation all the way from the stomach to the intestines and presents with nausea, vomiting and diarrhoea
Whats the most common cause of gastroenteritis?
Viral cause (Rotavirus/norovirus)
Whats the main concern with paediatric gastroenteritis?
Establishing if they can keep themselves hydrated - dehydration. could need admission for IV fluids.
What are the differential dignoses of gastroenteritis?
Infection (gastroenteritis)
Inflammatory bowel disease
Lactose intolerance
Coeliac disease
Cystic fibrosis - steatorrhoea - problem digesting fats - pancreatic insufficiency
Toddler’s diarrhoea
Irritable bowel syndrome
Medications (e.g. antibiotics)
What are the causative agents for viral gastroenteritis
- rotavirus
- norovirus
Name other causative agents of gastroenteritis
–> E.Coli
–> Campylobacter jejuni
–> Shigella
–> Salmonella
–> Bacillus Cereus
–> Yersinia enterocoliticia
–> staphylococcus Aereus toxin
–> Giardiasis
Why should antibiotics be avoided if E.coli gastroenteritis is suspected?
Increases the risk of the haemolytic uraemic syndrome
What are the symptoms of E.coli gastroenteritis?
E.coli prodcues the shiga toxin
Causes abdominal cramps, bloody diarrhoea and vomiting.
Which bacteria normally causes travellers diarrhoea?
Campylobacter jejuni
How is campylobacter jejuni spread (traveller’s diarrhoea)
–> Raw or improperly cooked diarrhoea
–> untreated water
–> unpasteurised milk
What are the symptoms of Campylobacter jejuni gastroenteritis?
Abdominal cramps
Diarrhoea often with blood
Vomiting
Fever
Which antibiotics can be considered for campylobacter jejuni gastroenteritis?
Azithromycin
ciprofloxacin
How is salmonella spread?
eating raw eggs or poultry, or food contaminated with the infected faeces of small animals
What are the symptoms of gastroenteritis caused by salmonella?
watery diarrhoea that can be associated with mucus or blood, abdominal pain and vomiting
Which toxin does staphylococcus Aureus produce which causes gastroenteritis symptoms?
enterotoxins - causes small intestine inflammation and causes diarrhoea, perfuse vomiting and abdominal cramps and fever
What is the pathophysiology of giardiasis?
Type of microscopic parasite
lives in the small intestine of mammals
release cysts in the stool of infected animals
faecal-oral transmission
can cause chronic diarrhoea
What can giardiasis be treated with?
metronidazole
What are the principles of gastroenteritis management?
–> Patients should be isolated and rigorous infection control measures
–> Stool sample tested for microscopy, culture and sensitivity
–> Maintain hydration, fluid challenge orally or IV fluids
–> Antidiarrhoeal medication is generally not recommended
–> Abx should only be given to high risk patients once the causative organism has been identified
Name some post-gastroenteritis complications
Lactose intolerance
Irritable bowel syndrome
Reactive arthritis
Guillain–Barré syndrome
What are the principles of gastroenteritis management?
–> Patients should be isolated and rigorous infection control measures
–> Stool sample tested for microscopy, culture and sensitivity
–> Maintain hydration, fluid challenge orally or IV fluids
–> Antidiarrhoeal medication is generally not recommended
–> Abx should only be given to high-risk patients once the causative organism has been identified
What are the principles of gastroenteritis management?
–> Patients should be isolated and rigorous infection control measures
–> Stool sample tested for microscopy, culture and sensitivity
–> Maintain hydration, fluid challenge orally or IV fluids
–> Antidiarrhoeal medication is generally not recommended
–> Abx should only be given to high-risk patients once the causative organism has been identified
what does failure to thrive refer to?
–> poor physical growth and development in a child
How do the NICE guidelines define faltering growth in children?
One or more centile spaces if their birthweight was below the 9th centile
Two or more centile spaces if their birthweight was between the 9th and 91st centile
Three or more centile spaces if their birthweight was above the 91st centile
What are the causes of failure to thrive?
Inadequate nutritional intake
Difficulty feeding
Malabsorption
Increased energy requirements
Inability to process nutrition
What are the causes of inadequate nutritional intake (failure to thrive)
Maternal malabsorption if breastfeeding
Iron deficiency anaemia
Family or parental problems
Neglect
Availability of food (i.e. poverty)
What are the causes of difficulty feeding (failure to thrive)
Poor suck, for example, due to cerebral palsy
Cleft lip or palate
Genetic conditions with an abnormal facial structure
Pyloric stenosis
What are the causes of malabsorption (failure to thrive)
Cystic fibrosis
Coeliac disease
Cows milk intolerance
Chronic diarrhoea
Inflammatory bowel disease
What are the causes of increased energy requirements (failure to thrive)
Hyperthyroidism
Chronic disease, for example congenital heart disease and cystic fibrosis
Malignancy
Chronic infections, for example HIV or immunodeficiency
What causes the inability to process nutrients properly (failure to thrive)
Inborn errors of metabolism
Type 1 diabetes
How do you carry out an assessment in failure to thrive patients?
Pregnancy, birth, developmental and social history
Feeding or eating history
Observe feeding
Mum’s physical and mental health
Parent-child interactions
Height, weight and BMI (if older than 2 years) and plotting these on a growth chart
Calculate the mid-parental height centile
Outcomes from the assessment that would suggest inadequate nutrition or a growth disorder are:
Height more than 2 centile spaces below the mid-parental height centile
BMI below the 2nd centile
What are the investigations in children who fail to thrive?
Urine dipstick, for urinary tract infection
Coeliac screen (anti-TTG or anti-EMA antibodies)
Further investigations are usually not necessary where there are no other clinical concerns. Focused investigations should be considered where additional signs or symptoms suggest an underlying diagnosis, such as cystic fibrosis or pyloric stenosis.
What is the management for faltering growth?
Management depends on the cause and may involve input from the multidisciplinary team. All children with faltering growth should have regular reviews to monitor weight gain.
Where difficulty with breastfeeding is the cause, there are lots of ways for the mother to get support, including midwives, health visitors, peers groups and “lactation consultants”. Supplementing with formula milk is likely to successfully improve growth, however it often results in breastfeeding stopping. Mother should be encouraged to feed with breastmilk prior to top-up feeds, and express when not breastfeeding to encourage lactation to continue.
Where inadequate nutrition is the cause there are several management options based on individual circumstances:
Encouraging regular structured mealtimes and snacks
Reduce milk consumption to improve appetite for other foods
Review by a dietician
Additional energy-dense foods to boost calories
Nutritional supplements drinks
Where other measures fail and there are serious concerns the multidisciplinary team may consider enteral tube feeding. This needs to have clear goals and a defined endpoint.
What is the pathology of meckles diverticulum
–> abnormal pouch on the antimesenteric side of the ileum
–> true diverticulum - contains all three layers of the intestinal wall
–> in early fetal life nutrients are received from the yolk sac into the ileum via the omphalomesenteric duct until it obliterates (weeks 5-6 pregnancy) - if it olbiterates improperly meckles diverticulum develops
–> can contain ectopic epithelia (pancreatic or gastric)
What are the complications of Meckles Diverticula?
Ulcers from HCI secretion if gastric mucosa is present, perforation can occur, food impaction, lithiasis, peritonitis, peritoneal adhesions, intussusception, volvulus and neoplasms
What are the signs and symptoms of meckels diverticula?
usually asymptomatic
abdominal pain/distention, melena, vomting and constipation
How is the diagnosis of Meckles diverticula made?
Incidental finding on abdominal ultrasound or CT
Meckles scan
and can be found on surgery
What is the treatment for Meckles diverticulum?
Surgical resection
What is cows milk protein allergy?
Condition that affects infants and young children under 3 years old - hypersensitivity to proteins in cows milk
What is the pathophysiology of cows milk protein allergy?
If IgE mediated then there is a rapid reaction to cows’ milk protein
If non-IgE mediated then the reaction happens slowly over the course of several days
Different to lactose intolerance as they don’t have an allergy to lactose as its a sugar not a protein
Not an allergic process and doesn’t involve the immune system
In whom is Cow’s milk protein allergy more common in?
More common in formula fed babies
those with a history of other atopic conditions
What is the presentation of cow’s milk protein allergy?
–> Normally presents before 1 year of age
–> may be apparent when weaned of breast milk
–> can present in breastfed babies when the mother is consuming dairy products
GI Sx - Bloating and wind, Abdo pain, diarrhoea and vomiting
General allergic symptoms - hives, facial swelling, cough or wheeze, sneezing, watery eyes and eczema
In severe cases anaphylaxis can occur
What is the management of cows’ milk protein allergy?
–> Breastfeeding mothers should avoid dairy products
–> Replace formula with special hydrolysed formula designed for Cow’s milk allergy
–> severe cases infants may require elemental formulas made up of basic amino acids
–> Most children outgrow cow’s milk protein allergy by the age of 3 often earlier
How is cows milk protein allergy diagnosed?
–> based of history and examination
–> Skin prick testing can help support the diagnosis
–> avoiding cow’s milk should fully resolve the symptoms
How can Cow’s milk protein allergy be diagnosed?
The diagnosis is made based on a full history and examination. Skin prick testing can help support the diagnosis but is not always necessary. Avoiding cow’s milk should fully resolve symptoms
Whats the difference between Cow’s milk intolerance and Cow’s milk allergy?
Presents with the same GI symptoms, but does not give allergic features - rash, angioedema, sneezing and coughing
Describe the process of excreting bilirubin
When red blood cells break down they release unconjugated bilirubin into the blood
Unconjugated bilirubin is conjugated in the liver so it can be excreted
can be excreted through the GI tract via the biliary system or through the urine
Describe why physiological jaundice can occur
–> High concentration of red blood cells in the fetus and neonate
–> red blood cells are more fragile and have a less developed liver function
–> Featal red blood cells break down more rapidly than normal red blood cells, releasing lots of bilirubin
–> Can cause jaundice 2-7 days of age, usually reoslves by 10 days
What are the causes of neonatal jaundice
Increased production of bilirubin
–> Haemolytic disease of the newborn
–> ABO incompatibility
–> Haemorrhage
–> Intraventricular haemorrhage
–> Cephalo-haematoma
–> Polycythaemia
–> Sepsis and disseminated intravascular coagulation
-> G6PD deficiency
Decreased clearance of bilirubin
–> Prematurity
–> Breast milk jaundice
–> Neonatal cholestasis
–> Extrahepatic biliary atresia
–> Endocrine disorders (hypothyroid and hypopituitary)
–> Gilbert syndrome
When is Jaundice seen as pathological in a neonate?
When its presents in the first 24 hours of life - urgent investigations and management needed
Why might jaundice present in the first 24 hours of life in a neonate?
Neonatal sepsis
Why is physiological jaundice exaggerated in premature neonates?
–> immature liver
What is the risk of physiological jaundice in premature neonates?
Kernicterus - brain damage due to the high bilirubin levels
Why are babies who are breastfed more likely to develop jaundice?
–> Components of breast milk inhibit the ability of the liver to process bilirubin
–> Breastfed babies are more likely to become dehydrated if not feeding adequately
–> Inadequate breastfeeding may lead to slow passage of stools increasing absorption of bilirubin in the intestines
–> benefits of breastfeeding outweigh the risks
Which disease is a cause of haemolysis and jaundice in neonates?
Haemolytic disease of the new born
What causes haemolytic disease of the newborn?
incompatibility between the rhesus D antigens on the surface of RBC of the mother and fetus
What is the pathophysiology of haemolytic disease of the newborn
Mum rhesus D negative becomes pregnant, we have to consider the possibility that her child will be rhesus D positive. It is likely at some point in the pregnancy the blood from the baby will find a way into her bloodstream. When this happens, the baby’s red blood cells display the rhesus D antigen. The mother’s immune system will recognise this rhesus D antigen as foreign and produce antibodies to the rhesus D antigen. The mother has then become sensitised to rhesus D antigens.
Usually, this sensitisation process does not cause problems during the first pregnancy (unless the sensitisation happens early on, such as during antepartum haemorrhage). During subsequent pregnancies, the mother’s anti-D antibodies can cross the placenta into the fetus. If that fetus is rhesus positive, these antibodies attach themselves to the red blood cells of the fetus and cause the immune system of the fetus to attack its own red blood cells. This leads to haemolysis, causing anaemia and high bilirubin levels. This leads to a condition called haemolytic disease of the newborn.
When is jaundice termed as prolonged?
More than 14 days in full-term babies
More than 21 days in premature babies
Which investigations should be carried out for neonatal jaundice?
–>Full blood count and blood film for polycythaemia or anaemia
–> Conjugated bilirubin: elevated levels indicate a hepatobiliary cause
–> Blood type testing of mother and baby for ABO or rhesus incompatibility
–> Direct Coombs Test (direct antiglobulin test) for haemolysis
–> Thyroid function, particularly for hypothyroid
–> Blood and urine cultures if infection is suspected. Suspected sepsis needs treatment with antibiotics.
–> Glucose-6-phosphate-dehydrogenase (G6PD) levels for G6PD deficiency
what is the management of neonatal jaundice?
In jaundiced neonates, total bilirubin levels are monitored and plotted on treatment threshold charts. These charts are specific for the gestational age of the baby at birth. The age of the baby is plotted on the x-axis and the total bilirubin level on the y-axis. If the total bilirubin reaches the threshold on the chart, they need to be commenced on treatment to lower their bilirubin level.
–> Phototherapy (blue light) is usually adequate
–> may require exchange transfusion
What is kernicterus
–> brain damage caused by excessive bilirubin levels
What is the pathophysiology of kernicterus?
–> Bilirubin crosses the blood brain barrier
–> direct damage to the central nervous system
–> damage to the central nervous system is permanent - causing cerebral palsy, LD and deafness
What is the presentation of kernicterus?
less responsive, floppy, drowsy baby, poor feeding
What are some medical causes of abdominal pain in children?
–> Constipation is also very common
–> Urinary tract infection
–> Coeliac disease
–> Inflammatory bowel disease
–> Irritable bowel syndrome
–> Mesenteric adenitis
–> Abdominal migraine
–. Pyelonephritis
–> Henoch-Schonlein purpura
–> Tonsilitis
–> Diabetic ketoacidosis
–> Infantile colic
There are addition causes in adolescent girls:
Dysmenorrhea (period pain)
Mittelschmerz (ovulation pain)
Ectopic pregnancy
Pelvic inflammatory disease
Ovarian torsion
Pregnancy
Name some surgical causes of abdominal pain
–> Appendicitis causes central abdominal pain spreading to the right iliac fossa
–> Intussusception causes colicky non-specific abdominal pain with redcurrant jelly stools
–> Bowel obstruction causes pain, distention, absolute constipation and vomiting
—> Testicular torsion causes sudden onset, unilateral testicular pain, nausea and vomiting
What are the red flags for serious abdominal pain?
–>Persistent or bilious vomiting
–> Severe chronic diarrhoea
–> Fever
–> Rectal bleeding
–> Weight loss or faltering growth
–> Dysphagia (difficulty swallowing)
–> Nighttime pain
–> Abdominal tenderness
Name some initial investigations that may indicate abdominal pathology
–> Anaemia can indicate inflammatory bowel disease or coeliac disease
–> Raised inflammatory markers (ESR and CRP) can indicate inflammatory bowel disease
–> Raised anti-TTG or anti-EMA antibodies indicate coeliac disease
–> Raised faecal calprotectin indicates inflammatory bowel disease
–> A positive urine dipstick indicates a urinary tract infection
What is infantile colic?
self-limiting condition seen in infants less than 3 months old and is characterised by bouts of excessive crying and pulling up of the legs, often worse in the evening with no obvious cause
what happens in acute pyelonephritis?
Infection that affects the tissue of the kidney and can lead to scarring of the tissue and a reduction in kidney function - ascending bacterial infection - also known as complicated UTI
what is cystitis?
Inflammation of the bladder
What are the symptoms of a UTI?
–> Could only be a fever
BABIES - present non specifically
- fever
- lethargy
- irritability
- vomiting
- poor feeding
- urinary frequency
OLDER INFANTS/CHILDREN
- fever
- abdo pain - suprapubic
- vomiting
- dysuria
- urinary frequency
- incontinence
How is a diagnosis of acute pyelonephritis made?
A temperature greater than 38°C
Loin pain or tenderness
how should a sample for urine dipstick be taken?
clean catch sample
What do the results on a urine dipstick show?
Nitrites – gram-negative bacteria (such as E. coli) break down nitrates, a normal waste product in urine, into nitrites. The presence of nitrites suggest bacteria in the urine.
Leukocytes – leukocytes are white blood cells. There are normally a small number of leukocytes in the urine, however a significant rise can be the result of an infection or another cause of inflammation. A urine dipstick tests for leukocyte esterase, a product of leukocytes that give an indication about the number of leukocytes in the urine.
Nitrites are a better indication of infection than leukocytes. If both are present the patient should be treated as a UTI. If only nitrites are present it is worth treating as a UTI. If only leukocytes are present the patient should not be treated as a UTI unless there is clinical evidence they have one.
What investigations should be carried out for acute UTI’s
Urine dipstick
Send a midstream urine (MSU) sample to the microbiology lab to be cultured and have sensitivity testing.
whats the management for UTI’s
All children under 3 months with a fever should start immediate IV antibiotics (e.g. ceftriaxone) and have a full septic screen, including blood cultures, bloods and lactate. A lumbar puncture should also be considered.
Oral antibiotics can be considered in children over 3 months if they are otherwise well. Children with features of sepsis or pyelonephritis will require inpatient treatment with IV antibiotics. Always follow local guidelines. Typical antibiotic choices in urinary tract infections in children are:
Trimethoprim
Nitrofurantoin
Cefalexin
Amoxicillin
What are the investigations for recurrent UTI’s?
–> need to investigate for underlying causes and renal damage
Ultrasound Scans
All children under 6 months with their first UTI should have an abdominal ultrasound within 6 weeks, or during the illness if there are recurrent UTIs or atypical bacteria
Children with recurrent UTIs
have an abdominal ultrasound within 6 weeks
Children with atypical UTIs should have an abdominal ultrasound during the illness
DMSA scans - kidney damage/scaring
Vesico-Ureteric reflux - urine flows from the bladder back into the ureters - predisposes patients to UTI - MCUG - micturating cystourethrogram
What is nocturnal and diurnal enuresis?
nocturnal enuresis - unable to control bladder at night
Diurnal enuresis - unable to control the bladder function during the day
Whats the difference between primary and secondary nocturnal enuresis?
Primary nocturnal enuresis - The child has never managed to be consistently dry
Secondary nocturnal enuresis - Child begins to wet themselves when they have previously been dry for at least 6 months
What are the causes of primary nocturnal enuresis?
–> variation of normal development especially if the child is less than 5 years old - most common
–> Overactive bladder. Frequent small-volume urination prevents the development of bladder capacity.
–> Fluid intake prior to bedtime, particularly fizzy drinks, juice and caffeine, which can have a diuretic effect
–> Failure to wake due to particularly deep sleep and underdeveloped bladder signals
–> Psychological distress, for example, low self-esteem, too much pressure or stress at home or school
–> Secondary causes such as chronic constipation, urinary tract infection, learning disability or cerebral palsy
What is the management of primary nocturnal enuresis?
–> Reassure parents of children under 5 years that it is likely to resolve without any treatment
–> Lifestyle changes: reduced fluid intake in the evenings, pass urine before bed and ensure easy access to a toilet
–> encouragement and positive reinforcement. Avoid blame or shame. Punishment should very much be avoided.
–> Treat any underlying causes or exacerbating factors, such as constipation
–> Enuresis alarms
–> Pharmacological treatment - Desmopressin - analogue of ADH, oxybutynin - anticholinergic (reduces contractility) and imipramine - TCA
What are the causes of secondary nocturnal enuresis?
Urinary tract infection
Constipation
Type 1 diabetes
New psychosocial problems (e.g. stress in family or school life)
Maltreatment - deliberate bedwetting
How is secondary nocturnal enuresis managed?
treating the underlying cause e.g constipation/UTI easy to treat
what are the two different types of Diurnal enuresis?
–> Urge incontinence is an overactive bladder that gives little warning before emptying
–> Stress incontinence describes leakage of urine during physical exertion, coughing or laughing.
What are some potential causes of diurnal enuresis?
Recurrent urinary tract infections
Psychosocial problems
Constipation
What is the pathophysiology of nephrotic syndrome?
–> basement membrane becomes highly permeable to protein, allowing proteins to leak from the blood into the urine
In which ages is nephrotic syndrome most common?
2 to 5 years
What does nephrotic syndrome present with?
Frothy urine
generalised oedema
pallor
What is the classic triad of features in nephrotic syndrome?
–> Low serum albumin
–> High urine protein content - >3+ protein on urine dipstick
–> oedema
Name 3 other features of a nephrotic syndrome not in the classic triad
Deranged lipid profile, with high levels of cholesterol, triglycerides and low-density lipoproteins
High blood pressure
Hyper-coagulability, with an increased tendency to form blood clots
What are the causes of nephrotic syndrome in children?
–> minimal change disease, causing over 90% of cases in children under 10. In minimal change disease, the nephrotic syndrome occurs in isolation, without any clear underlying condition or pathology. There are a number of secondary causes of nephrotic syndrome, where it occurs due to an underlying condition.
–> can be secondary to intrinsic kidney disease - focal segmental glomerulosclerosis/ membranoproliferative glomerulonephritis
–> Can also be secondary to an underlying illness - HSP/diabetes/infection - HIV, Malaria, hepatitis
what will a renal biopsy and standard microscopy in minimal change disease show?
not able to detect abnormality
what will urinalysis of minimal change disease show?
small molecular weight proteins
hyaline casts
What is the management of minimal change disease?
–> Corticosteroids (Prednisolone)
What is the prognosis of minimal change disease?
The prognosis is good and most children make a full recovery, however it may reoccur.
What is the general management of nephrotic syndrome?
–> High-dose steroids (i.e. prednisolone)
–> Low salt diet
–> Diuretics may be used to treat oedema
–> Albumin infusions may be required in severe hypoalbuminaemia
–> Antibiotic prophylaxis may be given in severe cases
–> High-dose steroids are given for 4 weeks and then gradually weaned over the next 8 weeks:
–> 80% of children will respond to steroids and are referred to as steroid sensitive
–> 80% of steroid-sensitive patients will relapse at some point and need further steroids
–> Patients that struggle to wean steroids due to relapses are referred to as steroid dependant
–> Patients that do not respond to steroids are referred to as steroid-resistant
In steroid-resistant children, ACE inhibitors and immunosuppressants such as cyclosporine, tacrolimus or rituximab may be used.
What are the complications of nephrotic syndrome?
–> Hypovolaemia occurs as fluid leaks from the intravascular space into the interstitial space causing oedema and low blood pressure.
–> Thrombosis can occur because proteins that normally prevent blood clotting are lost in the kidneys, and because the liver responds to the low albumin by producing pro-thrombotic proteins.
–> Infection occurs as the kidneys leak immunoglobulins, weakening the capacity of the immune system to respond. This is exacerbated by treatment with medications that suppress the immune system, such as steroids.
–> Acute or chronic renal failure
–> Relapse
what is hypospadias?
Congenital condition affecting males where the urethral meatus is abnormally displaced to the ventral side of the penis towards the scrotum
Where might the urethral meatus be abnormally displaced in hypospadias?
This might be further towards the bottom of the glans (in 90% of cases), halfway down the shaft or even at the base of the shaft. Epispadias is where the meatus is displaced to the dorsal side (top side) of the penis.
What is the management of hypospadias?
Hypospadias requires referral to a paediatric specialist urologist for ongoing management. It is important to warn parents not to circumcise the infant until a urologist indicates this is ok.
Mild cases may not require any treatment
Surgery is usually performed after 3 – 4 months of age
Surgery aims to correct the position of the meatus and straighten the penis
What are the complications of hypospadias?
Difficulty directing urination
Cosmetic and psychological concerns
Sexual dysfunction
What is the pathophysiology of haemolytic uraemic syndrome?
–> Thrombosis in small blood vessels throughout the body
–> Triggered by a bacterial toxin called Shiga toxin
–> leads to a triad of symptoms:
Haemolytic anaemia: anaemia caused by red blood cells being destroyed
Acute kidney injury: failure of the kidneys to excrete waste products such as urea
Thrombocytopenia: low platelet count
What the most common cause of haemolytic uraemic syndrome?
toxin produced by the e. coli 0157 bacteria, called the shiga toxin. Shigella also produces this toxin. The use of antibiotics and anti-motility medications such as loperamide to treat gastroenteritis caused by these pathogens increases the risk of developing HUS.
What can increase the risk of haemolytic uraemic syndrome?
The use of antibiotics and anti-motility medications such as loperamide to treat gastroenteritis caused by these pathogens increases the risk of developing HUS.
What is the presentation of haemolytic uraemic syndrome?
E. coli 0157 causes brief gastroenteritis, often with bloody diarrhoea. The symptoms of haemolytic uraemic syndrome typically start around 5 days after the onset of the diarrhoea.
Signs and symptoms of HUS may include:
Reduced urine output
Haematuria or dark brown urine
Abdominal pain
Lethargy and irritability
Confusion
Oedema
Hypertension
Bruising
What is the management of haemolytic uraemic syndrome?
HUS is a medical emergency and has a 10% mortality. It needs to be managed by experienced paediatricians under the guidance of a renal specialist. The condition is self-limiting and supportive management is the mainstay of treatment:
Urgent referral to the paediatric renal unit for renal dialysis if required
Antihypertensives if required
Careful maintenance of fluid balance
Blood transfusions if required
70 to 80% of patients make a full recovery.
What is cryptorchidism?
undescended testes
Where do the testes normally develop?
in the abdomen
Whats the path that the testes take from the abdomen to the scrotum?
through the inguinal canal into the scrotum
When should the testes migrate down to the scrotum?
prior to birth
Undescended testes in older children or after puberty hold a higher risk of what?
testicular torsion
infertility
testicular cancer
What are the risk factors for undescended testes?
Family history of undescended testes
Low birth weight
Small for gestational age
Prematurity
Maternal smoking during pregnancy
What is the management of undescended testes?
Watching and waiting is appropriate in newborns. In most cases the testes will descend in the first 3 – 6 months. If they have not descended by 6 months they should be seen by a paediatric urologist. Orchidopexy (surgical correction of undescended testes) should be carried out between 6 and 12 months of age.
what is testicular torsion?
twisting of the spermatic cord with rotation of the testicle - urological emergency and delay in treatment increases the risk of ischaemia and necrosis of the testicle - leading to infertility
What is the typical patient presenting with testicular torsion?
Teenage boy - can occur at any age
How is testicular torsion normally triggered?
activity - usually sports
What is the presentation of testicular torsion?
–> Acute rapid onset
–> unilateral testicular pain
–> may be associated with abdo pain and vomiting
–> Sometimes vomiting is the only sign
