Paediatrics Flashcards
What is mottled skin a sign of?
Poor perfusion
Uptill what age is brachial pulse easier to assess than radial pulse?
6 months
When is pulse rate best measured?
When child is calm
What does CRT show in children?
Compromised circulation due to peripheral circulation shutdown
What vaccinations are given at 8 weeks?
6 in 1
Meningococcal group B
Rotavirus
What vaccinations are given at 12 weeks?
6 in 1
Pneumococcal
Rotavirus
What vaccinations are given at 16 weeks?
6 in 1
Meningococcal group B
What vaccinations are in the 6 in 1 vaccine?
Diphtheria
Tetanus
Pertussis
Polio
Haemophilus influenzae type b
Hepatitis B
When is the 6 in 1 vaccine administered?
8, 12, 16 weeks
When is the rotavirus vaccine administered?
8 and 12 weeks
When is the pneumococcal vaccine administered?
12 weeks and 1 year
When is the meningococcal group B vaccine adminstered?
8 and 16 weeks
What vaccines are given at 1 year?
Haemophilus influenzae B
Meningococcal B and C
Pneumococcal
MMR
What vaccines are given at 3 years and 4 months?
Diphtheria
Tetanus
Polio
Pertussis
MMR
What vaccines are given at 14 years (year 9)?
Diphtheria, tetanus, polio
Meningococcal groups ACWY
What are the major functional areas of developmental milestones?
Gross motor
Fine motor and vision
Hearing, speech and language
Social, emotional and behavioural
What defines the limit for a child to meet a certain developmental milestone?
Two standard deviations from mean age of acquisition
What is otitis media?
General term to describe disorders of middle ear inflammation including acute otitis media, otitis media with effusion, chronic otitis media
Epidemiology of otitis media?
Peak incidence between 6-18 months
Common complication of viral respiratory infection
More common in boys
Aetiology of otitis media?
Respiratory virus/ bacteria
Pathophysiology of otitis media?
Colonisation of nasal passage, eustachian tube and middle ear cause inflammation
Can lead to suppuration, effusion which can increase pressure against tympanic membrane
Risk factors for otitis media?
Exposure to tobacco smoke
Lack of breastfeeding
Daycare attendance
Having siblings
Supine feeding
Low socioeconomic status
Craniofacial anomaly
Immunological deficiency
Classification of otitis media?
Acute otitis media
Otitis media with effusion
Chronic otitis media
What is the clinical presentation of otitis media?
Otalgia
Preceeding upper respiratory symptoms
Bulging tympanic membrane
Myringitis
Fever
Irritability and sleep disturbance
Investigations to diagnose otitis media?
Otoscopy
Clinical diagnosis
Differentials for for otitis media?
Otitis media with effusion
Mastoiditis
Myringitis
Cholesteatoma
Management of otitis media?
Analgesia; paracetamol, ibuprofen
Antibiotics if symptoms last longer than 72 hours and over 6 months; Amoxicillin, co-amoxiclav, Cefuroxime
Tympanocentesis
What could be cause of recurrent otitis media?
Anatomical anomaly
Complications of otitis media?
Bullous myringitis
Acutely perforated tympanic membrane
Mastoiditis
Otitis media with effusion
Prognosis of otitis media?
Patient makes recovery in 2-3 days
Long term complications are rare
Gold standard investigation your congenital heart disease in children?
Echocardiogram
What are the shunts present in foetal circulation?
Ductus venosus; connects umbilical vein to inferior vena cava to bypass liver
Foramen ovale; connects RA to LA to bypass pulmonary circulation
Ductus arteriosus; connects pulmonary artery to aorta to bypass pulmonary circulation
What happens during the first breath?
Air inflates alveoli which decreases pulmonary vascular resistance
Pressure in right atrium falls below left atrium squashing atrial septum and functions . as a functional closure of the foramen ovale
Increased oxygenation causes a fall in prostaglandins and hence closure of ductus arteriosus
What is needed for patency of ductus arteriosus?
Prostaglandin
Features of an innocent murmur?
Soft
Short
Systolic
Symptomless
Situational; quieter with standing and typically presents during illness
Features of a murmur prompting referral?
Murmur louder than 2/6
Diastolic murmur
Louder on standing
Failure to thrive, feeling difficulty, ,cyanosis, shortmen of breath
Investigation to diagnose congenital heart disease?
ECG
Chest X-ray
Echocardiogram
Causes of a pan-systolic murmur?
Mitral regurgitation
Tricuspid regurgitation
Ventricular septal defect
Causes of ejection systolic murmur?
Aortic stenosis
Pulmonary stenosis
Hypertrophic obstructive cardiomyopathy
Murmur heard in ASD?
Mid-systolic
Crescendo-decresendo
Heard loudest at upper left sternal boarder
Fixed split second heart sound
Murmur heard in patent ductus arteriosus?
Continuous crescendo- decresendo machinery murmur during second heart sound
Murmur heard in tetralogy of fallot?
Arises from pulmonary stenosis
Ejection systolic murmur heard loudest at the pulmonary area
Acyanotic heart defects?
VSD
ASD
PDA
However if Eisenmengers syndrome occurs can become cyanotic
What is eisenmenger syndrome?
Reversal of a left to right shunt due to pulmonary pressure exceeding systemic pressure and converting shunt to right to left resulting in cyanosis
When does ductus arteriosus close?
Functional closure achieved in first 3 days of life
Complete closure in just 2-3 weeks
Risk factors for PDA?
Genetic
Maternal rubella infection
Prematurity
Pathophysiology of PDA?
Pressure is higher in aorta and hence systemic circulation so shunt is left to right
This increases pulmonary pressure resulting in right heart strain leading to right ventricular hypertrophy
Increased bloodflow through pulmonary vessels leads to increased left heart pressure and compensatory left ventricular hypertrophy
Presentation of PDA?
Murmur; continuous crescendo-decrescendo machinery murmur during second heart sound
Shortness of breath
Difficulty feeding
Poor weight gain
Lower respiratory tract infection
Management of PDA?
Typically mointerned till 12 months of age via echocardiogram, unlikely to close after 1 year of age
Trans-catheter or surgical closure
What is an ASD?
Hole in the septum between two atria connecting right and left atria allow blood to flow between
Pathophysiology of ASD?
During normal development two walls, the septum primum and septum secondum fuse with endocardial cushion in middle of the heart
Defects in this process result in ASD
Types of ASD?
Ostium secondum
Patent foramen ovale (not technically an ASD)
Ostium primum
Presented in order of how common these defects are
Complication of ASD?
Stroke
Atrial fibrillation /atrial flutter
Pulmonary hypertension
Eisenmenger syndrome
Presentation of ASD?
Murmur; mid systolic crescendo decrescendo murmur heard best at upper left sternal border with fixed split second heart sound
Shortness of breath
Difficulty feeding
Poor weight gain
Lower respiratory tract infection
Management of ASD?
Referral to paediatric cardiologist
Correction of defect; Transvenous catheter closure, Open heart surgery
Anticoagulation can be used to reduce risk of clots and stroke
Associations with VSD?
Down’s syndrome
Turner’s syndrome
What is a VSD?
Congenital hole in the septum between the ventricles
Pathophysiology of VSD?
Left to right shunt due to higher pressure in LV than RV, can ihad to right heart overload, right ventricular hypertrophy and pulmonary hypertension
Can eventually lead to Eisenmengers syndrome
Presentation of VSD?
Shortness of breath
Tachypnoea
Poor feeding
Failure to thrive
Murmur; Pan systolic murmur heard at left sternal border in third and fourth intercostal space
Systolic thrill on palpation
Management of VSD?
Often close spontaneously
Transvenous catheter closure or open heart surgery
What congenital defects can lead to eisenmangers syndrome?
Atrial septal defect
Ventricular septal defect
Patent ductus arteriosus
Pathophysiology of eisenmenger’s syndrome?
Left to right shunt shifts blood to right side of heart increasing pressure in pulmonary vessels leading to pulmonary hypertension, right ventricular hypertrophy
Eventually pulmonary pressure exceeds systemic pressure shunt is reversed to a right to left shunt resulting in cyanosis
Presentation of eisenmenger syndrome?
Cyanosis
Clubbing
Dyspnoea
Plethoric complexion
Examination findings;
Right ventricular heave
Loud P2
Raised JVP
Peripheral oedema
Prognosis of eisenmanger’s syndrome?
Reduced life expectancy around 20 years compared to healthy individuals
Main causes of death include heart failure, infection, thromboembolism and haemorrhage
Pregnancy is higher risk
Management of eisenmanger’s syndrome?
Timely detection and correction of defect to prevent this complication
Only definitive treatment is heart and lung transplantation
Medical management;
Pulmonary hypertension; slidenafil
Treat arrhythmia
Treat polycythaemia
Prevent thrombosis
Infective endocarditis prophylaxis
What is coarctation of aorta?
Narrowing of aortic arch usually around the ductus arteriosus
What genetic condition is associated with coarctation of aorta?
Turners syndrome
Pathophysiology of coarctation of aorta?
Reduces pressure of blood distal to narrowing and increases pressure proximal to narrowing such as heart and just three branches of aorta
Presentation of coarctation of aorta?
Weak femoral pulse
Systolic murmur heard best below left clavicle or left scapula
Tachypnoea
Underdeveloped left arm and legs
Management of coarctation of aorta?
In severe cases prostaglandin E2 can be used to maintain patency of ductus
Surgical correction and ligate ductus
What is aortic valve stenosis ?
When babies are born with a narrowed aortic valve orifice which restricts blood flow from the left ventricle into the aorta
Symptoms of aortic valve stenosis?
Mild cases can remain asymptomatic
Fatigue
Shortness of breath
Dizziness and fainting
Symptoms are worse on exertion
Signs of aortic valve stenosis?
Murmur; Ejection systolic crescendo- decrescendo which radiates over carotids
Ejection click just before murmur
Palpable thrill during systole
Slow rising pulse and narrow pulse pressure
Management of aortic valve stenosis?
Percutaneous balloon aortic valvoplasty
Surgical aortic valvotomy
Valve replacement
Complications of aortic valve stenosis?
Left ventricular outflow tract obstruction
Heart failure
Ventricular arrhythmia
Bacterial endocarditis
Sudden death, Often on onexertion
What is pulmonary valve stenosis?
Narrowing in right ventricular outflow tract
Associations of congenital pulmonary valve stenosis?
Tetralogy of fallot
William syndrome
Noonan syndrome
Congenital rubella syndrome
Symptoms of pulmonary valve stenosis?
Fatigue on exertion
Shortness of breath
Dizziness and fainting
Signs of pulmonary stenosis?
Murmur; Ejection systolic murmur .heard loudest at pulmonary area
Palpable thrill in pulmonary area
Right ventricular heave due to RVH
Raised JVP with giant a waves
Management of pulmonary stenosis?
Asymptomatic; watch and wait
Balloon valvuloplasty
Open heart surgery
Defects that make up tetralogy of fallot?
Ventricular septal defect
Overriding aorta
Pulmonary valve stenosis
Right ventricular hypertrophy
Pathophysiology of tetralogy of fallot?
VSD provides left to right shunt
Overriding aorta means aorta is connected more to the right so some blood from right ventricle empties into aorta creating a right to left shunt
Pulmonary stenosis encourages passage of blood from right to left and causes RVH
All these defects produce an overall right to left shunt and a cyanotic baby
Risk factors for developing tetralogy of fallot?
Rubella infection
Maternal age over 40 years
Alcohol consumption in pregnancy
Diabetic mother
What is seen on chest x-ray in tetralogy of fallot?
Boot shaped heart
Signs and symptoms of tetralogy of fallot?
Cyanosis
Clubbing
Poor feeding and poor weight gain
Tet spells
Murmur; ejection systolic due to pulmonary stenosis
What is a tet spell?
Intermittent symptomatic periods where right to left shunt becomes temporarily worsened precipitating a cyanotic episode
Pathophysiology of tet spell?
Pulmonary vascular resistance increases or systemic resistance decreases
Such as ef child is physically exerting themself, a lot of CO2 is generated causing systemic vasodilation and hence reduces pressure
Blood is pumped through path of least resistance so blood from RV into aorta
Often precipitated by waking, physical exertion, crying
Treatment for tet spells?
Squat, or in younger children pull knees to chest in younger children to increase systemic vascular resistance
Supplementary oxygen
Beta-blockers, morphine and fluids to help increase systemic pressure
Sodium bicarbonate; buffer metabolic acidosis
Phenylephrine infusion to increase systemic vascular resistance
Management of tetralogy of fallot?
In neonates prostaglandin infusion to keep ductus open
Total surgical repair by open heart surgery -> 5% mortality from surgery
What is ebstein’s anomaly?
Tricuspid valve is set lower in the right side of the heart producing a larger RA and smaller RV resulting in Right to left shunt through an ASD
Blood bypasses lungs leading to cyanosis
What condition is ebstein’s anomaly associated with?
Wolff- Parkinson White syndrome
Torsades de pointes
Presentation of ebstein’s anomaly?
Heart failure
Gallop rhythm
Cyanosis
Shortness of breath
Tachypnoea
Poor feeding
Collapse or cardiac arrest
What is seen on ECG in ebstein’s anomaly?
Arrhythmias
Right atrial enlargement
Right bundle branch block
Left axis deviation
Management of ebstein’s anomaly?
Treat arrhythmia and heart failure
Surgical correction
What is transposition of the great arteries?
Attachments of the aorta and pulmonary trunk to the heart are swapped meaning the right ventricle pumps blood into aorta and left ventricle into pulmonary trunk
What other conditions are associated with transposition of the great arteries?
Ventricular septal defect
Coarctation of the aorta
Pulmonary stenosis
What is prognosis of transposition of great arteries?
Unless other co-existing shunt is present, baby will be born cyanosed and require immediate correction
Presentation of transposition of great arteries?
Usually diagnosed during antenatal ultrasound scan, ensure woman delivers in a hospital capable of managing the baby
VSD or PDA can initially compensate but will quickly develop respiratory distress, tachycardia, poor feeling, poor weight gain
Management of transposition of great arteries?
Prostaglandin infusion to maintain patency of ductus, Balloon septostomy to create larger ASD to allow mixing of blood
Arterial switch operation
What is bronchiolitis?
Inflammation and infection of the bronchioles usually caused by virus
Epidemiology of bronchiolitis?
Common upto the age of 2 years
Most commonly diagnosed in infants under 6 months
Pathophysiology of bronchiolitis?
Infection and inflammation of airways leads to hypersecretion of mucus which can block narrower airways
Oedematous inflammation can also cause airways to become narrowing further limiting gas exchange
Presentation of bronchiolitis?
Coryzal symptoms
Dyspnoea
Tachypnoea
Poor feeding
Mild fever
Apnoea
Wheeze and crackles on auscultation
Signs of respiratory distress?
Increased respiratory rate
Use of accessory muscles
Intercostal and subcostal recessions
Nasal flaring
Head bobbing
Tracheal tugging
Cyanosis
Abnormal airway noises
Epidemiology of congenital heart defects?
1% of live births
Risk factors for congenital heart disease?
Infection; Maternal rubella infection
Exposure to teratogenic drugs; thalidomide, isotretinoin, lithium
Maternal alcohol consumption
Poorly controlled type 1 and type 2 diabetes
What is a wheeze?
Whistling sound caused by narrowed airways, typically heard during expiration
What is grunting?
Exhalation with the glottis partially closed to increase positive end expiratory pressure
What is stridor?
High pitched inspiratory noise caused by obstruction of upper airway
Typical course of RSV?
Starts as URTI with coryzal symptoms
Chest symptoms develop in 1-2 days following coryzal symptoms
Symptoms worsen on days 3 or 4
Symptoms last 7 to 10 days and patients fully recover in 2-3 weeks
Prognosis of bronchiolitis?
Usually makes full recovery
More likely to develop viral induced wheeze
Indications to admit child with bronchiolitis?
Under three months
Pre-existing condition; prematurity, cystic fibrosis, downs syndrome
Clinical dehydration
Respiratory rate over 70
Oxygen sats under 92%
Moderate to severe respiratory distress
Apnoea
Concerns around managing child at home
Management of bronchiolitis?
Ensure adequet fluid and oral intake
Saline nasal drops and nasal suctioning
Supplementary oxygen
Ventilatory support if needed
Signs of poor ventilation?
Measured on capillary blood gas
Raising pCO2
Falling pH
What is palivizumab?
Monoclonal antibody that targets RSV and is given as a monthly injection to high risk babies to protect them against RSV bronchiolitis
Indications for palivizumab injection?
Ex premature
Congenital heart disease
What is viral induced wheeze?
Acute wheezy illness caused by viral infection usually presenting before age of 3 years with no atopic history
Pathophysiology of viral induced wheeze?
Inflammation, oedema and swelling in walls of airways in response to virus results in airway constriction which can be made worse by smooth muscle constriction
Reduced airflow through narrower airways resulting in symptoms of wheeze
Presentation of viral induced wheeze?
Shortness of breath
Signs of respiratory distress
Expiratory wheeze throughout chest
What is acute asthma?
Rapid deterioration of asthma usually triggered by allergy, infection, cold weather, exercise
Presentation of acute asthma?
Shortness of breath
Signs of respiratory distress
Tachypnoea
Expiratory wheeze
Establish severity of attack
Features of a moderate acute asthma attack?
Peak flow >50% predicted
Normal speech
Features of a severe acute asthma attack?
Peak flow <50% predicted
02 sats <92%
Unable to complete sentences in one breath
Signs of Respiratory distress
Respiratory rate >40 in age 1-5 years, >30 in age over 5 years
Heart rate >140 in 1-5 years, >125 in age over 5 years
Signs of a life threatening acute asthma attack?
Peak flow <33% predicted
Saturations < 92%
Exhaustion. and poor respiratory effort
Hypotension
Silent chest
Cyanosis
Altered conciousness/confusion
How is acute asthma managed?
Mild; regular salbutamol such as 4-6 puffs every 4 hours
Severe
1) Salbutamol, 10 puffs every 2 hours
2) Nebulised salbutamol/ ipratropium bromide
3) Oral prednisolone
4) IV hydrocortisone
5) IV magnesium sulphate
6) IV salbutamol
7) IV aminophylline
It still not controlled consider ICU admission, intubation and ventilation
What is a typical step down regime for inhaled salbutamol?
10 puffs every 2 hours then
10 puffs every 4 hours then
6 puffs every 4 hours then
4 puffs every 6 hours
What electrolyte should be monitored when taking large doses of salbutamol?
Potassium
Salbutamol causes potassium to shift from blood into cells
What is chronic asthma?
Chronic inflammatory airway disease leading to variable airway obstruction as a result of hypersensitive airways
Presentation of asthma?
Dry cough with wheeze, shortness of breath
Episodic symptoms with intermittent exacerbations
Diurnal variability; typically worse at night and early morning
History of other atopic conditions
Family history of asthma /atopy
Bilateral widespread polyphonic wheeze
Symptoms improve with bronchodilators
Typical triggers for asthma?
Dust
Animals
Cold air
Exercise
Smoke
Food allergens
Investigations to diagnose asthma?
Clinical
Spirometry and peak flow variability
Fractional exhaled nitric oxide
Direct bronchial challenge test
Medical management of asthma under 5 years of age?
1) SABA
2) Add low close corticosteroid inhaler or oral montelukast
3) Add other option from step 2
4) Refer to specialist
Medical management of asthma in children aged 5 to 12 years?
1) SABA
2) Low dose corticosteroid inhaler
3) LABA
4) Titrate up corticosteroid and consider adding either montelukast or theophylline
5) Increase dose of inhaled corticosteroid
6) Referral to specialist
Medical management of asthma in children over the age of 12 years?
1) SABA
2) Regular low dose corticosteroid inhaler
3) LABA, continue only if good response
4) Titrate up corticosteroid inhaler to medium dose, consider trial of montelukast, theophylline or LAMA (tiotropium)
5) Titrate up corticosteroid inhaler to high dose
6) Referall to specialist and consider oral steroids
Issues surrounding corticosteroids and growth?
Slows down growth in children
Dose dependant effect
Advice for cleaning spacer device?
Cleaned once a month
Avoid scrubbing
Allow to airdry to prevent static as this can prevent medication being inhaled
What is pneumonia?
Infection of lung tissue
Symptoms of pneumonia?
Wet and productive cough
High fever
Tachypnoea
Tachycardia
Increased work of breathing
Lethargy
Delerium
Characteristic signs of pneumonia?
Bronchial breath sounds; harsh breath sounds equally lond on inspiration and expiration caused by consolidation of the lung tissue around airway
Focal coarse crackles; air passing through sputum
Dullness to percussion; lung tissue collapse/ consolidation
Causes of pneumonia?
Most common; streptococcus pneumonia
Bacterial; group A strep, group B strep, staphylococcus aureus, haemophilus influenzae, mycoplasma pneumonia
Viral; RSV, parainfluenza virus, influenza virus
Atypical cause of pneumonia?
Mycoplasma pneumonia
Investigations to diagnose pneumonia?
Sputum culture, throat swab, bacterial culture, viral PCR
Management of pneumonia?
Amoxicillin is first line antibiotic
Macrolide ( erythromycin, clarythromycin, azithromycin) can be used to cover atypical causes or when allergic to penicillin
What is croup?
Acute infective respiratory disease of upper airway causing oedema in larynx
What age group does croup commonly affect?
6 months to 2 years
Cause of croup?
Most common; parainfluenza virus
Influenza
Adenovirus
RSV
Presentation of croup?
Increased work of breathing
Barking cough
Hoarse voice
Stridor
Low grade fever
What causative agent of croup used to be associated with high mortality?
Diptheria
Leads to epiglottistis, vaccination has reduced incidence
Management of croup?
Oral dexamethasone; 150 mcg/kg, can be repeated in 12 hours if needed
Oxygen
Nebulised adrenaline, budesonide
What is epiglottitis?
Inflammation and swelling of the epiglottis which can swell and completely occlude airway resulting in life threatening complication
Cause of epiglottistis?
Haemophilus influenzae type B
Presentation of epiglottitis?
Sore throat
Stridor
Difficulty/ Painful swallowing
Drooling
Tripod position
Scared and quiet child
High fever
Investigations to diagnose Acute epiglottitis?
Should not perform investigations as this can startle child and cause airway obstruction
A lateral view neck X-ray would show thumb sign, and useful in ruling out foreign body
Management of epiglottitis?
Not to distress child
Ensure airway is secure; may require intubation or tracheostomy
IV antibiotics; ceftriaxone and steroids
Prognosis of epiglottitis?
Most children recover not requiring intubation
Common complication is epiglottic abscess
What is laryngomalacia?
The supraglottic larynx (above the vocal cords) is structured in a way to cause partial airway obstruction
Pathophysiology of laryngomalacia?
Tissues surrounding supraglottic larynx is softer and has less tone meaning it can flop across the airway, particularly during inspiration across the airway to partially occlude it, which generates characteristic whistling sound
Peak age of laryngomalacia?
6 months
Presentation of laryngomalacia?
Inspiratory stridor; harsh whistling sound when breathing in
Usually intermittent and more prominent when feeding, upset, lying on back or during URTI
Management of laryngomalacia?
Usually resolves as larynx matures and is better adapted to support itself
In severe cases surgery can be performed to support larynx
What is whooping cough?
URTI caused by bordetella pertussis, a gram negative bacteria
Presentation of whooping cough?
Coryzal symptoms with low grade fever
More severe coughing fits develop
Large, loud inspiratory whoop
Following coughing can lead to fainting, vomiting
Investigations to diagnose whooping cough?
Nasal swabs with PCR/ bacterial culture within 2-3 weeks of the onset of symptoms
Anti-pertussis toxin immunoglobulin G if symptoms present for more than 2 weeks
Management of whooping cough?
Notify public health
Supportive care
Macrolides can be useful in first 21 days
Prophylactic antibiotics to vunerable close contacts
Complications of whooping cough?
Bronchiectasis
What is chronic lung disease of prematurity?
Bronchopulmonary dysplasia
Occurs in premature babies born before 28 weeks suffering with respiratory distress syndrome requiring oxygen therapy
Features of chronic lung disease of prematurity?
Low oxygen saturations
Increased work of breathing
Poor feeding and weight gain
Crackles and wheeze
Increased susceptibility to infection
How can chronic ling disease of prematurity be prevented?
Corticosteroids to mothers showing signs of pre-term labour
Use CPAP rather than intubation and ventilation
Use caffeine to stimulate respiratory effort
Not to over oxygenate with supplemental oxygen
Management of chronic lung disease of prematurity?
Sleep study to assess oxygen sats during sleep to guide treatment
Palivizumab injection for RSV protection
What is cystic fibrosis?
Autosomal recessive condition affecting CFTR gene on chromosome 7 affecting mucus glands and secretion of thick mucus
What isthe most common mutation in cystic fibrosis?
delta- F508
Consequences of cystic fibrosis mutation?
Thick pancreatic and biliary secretions; lack of enzyme secretions in digestive tract
Low volume thick airway secretions; reduced airway secretion resulting in bacterial colonisation
Congenital bilateral absence of the vas deferens
What is often the first sign of cystic fibrosis?
Meconium ileus
Symptoms of cystic fibrosis?
Chronic cough
Thick sputum production
Recurrent respiratory tract infection
Lose greasy stools
Abdominal pain and bloating
Poor weight and height gain
Signs of cystic fibrosis?
Low weight or height on growth charts
Nasal polyps
Finger clubbing
Crackles / wheeze
Abdominal distention
Causes of clubbing in children?
Hereditary clubbing
Cyanotic heart disease
Infective endocarditis
Cystic fibrosis
Tuberculosis
Inflammatory bowel disease
Liver cirrhosis
How is cystic fibrosis diagnosed?
Newborn blood spot test
Sweat test
Genetic tost
Gold standard test to diagnose Cystic fibrosis?
Sweat test; chloride concentration more than 60 mmol/ L
Examples of microbial colonisers in CF patients?
Staphylococcus aureus
Haemophilus influenzae
Klebsiella pneumoniae
Escherichia coli
Burkhodheria cepacia
Pseudomonas aeruginosa
How is colonisation with pseudomonas aeruginosa managed?
Nebulised antibiotic long term such as tobramycin
Oral ciprofloxacin
Management of cystic fibrosis ?
Chest physiotherapy; To clear mucus
Exercise to improve lung function
High calorie diet
CREON tablets; replace pancreatic secretions
Prophylactic flucloxacillin
Treat chest infections
Nebulised hypertonic saline and DNAase: reduce viscosity
Vaccinations
What vaccinations are given to CF patients?
pneumococcal, influenza, varicella
Monitoring requirements for patients with CF?
Every 6 weeks
Sputum cultures for colonisation
Screening for diabetes, osteoporosis, vitamin D deficiency, liver failure
Prognosis of CF?
median life expectancy 47 years
90% of patients develop pancreatic insufficiency
50% of adults develop CF related diabetes
30% of adults develop CF related liver disease
Why does cystic fibrosis cause male infertility?
Congenital bilateral absence of the vas deferens
What is primary ciliary dyskinesia ( Kartagner syndrome ) ?
Autosomal recessive condition causing dysfunctional motility of the cilia, mostly affecting those in respiratory tract
Pathophysiology of Kartagner’s syndrome?
Dysfunctional motility of cilia leads to build up of mucus in the lungs creating a suitable environment for chest infections with frequent and chronic chest infections
Also affects motility of cillia in fallopian tubes and sperm tails leading to fertility issues
Similar presentation to CF
What is Kartagner’s traid?
Paranasal sinusitis
Bronchiectasis
Situs inversus
What is situs inversus?
all internal organs are located in mirrored locations inside the body
Association of primary ciliary dyskinesia and situs inversus?
25% of patients with situs inversus have PCD
50% of patients with PCD have situs inversus
Investigations to diagnose Kartagner’s syndrome?
Family history; consanguinity
Clinical presentation
Biopsy of ciliated epithelium
Management of Kartagner’s syndrome?
Similar to CF with physiotherapy, high calorie diet, antibiotics
Causes of abdominal pain in children?
Constipation
UTI
Coeliac disease
IBD
Mesenteric adenitis
Abdominal migraine
Pyelonephritis
Henoch-Schonlein purpura
Tonsilitis
Diabetic ketoacidosis
Infantile colic
Surgical causes of abdominal pain in children?
Appendicitis
Intussuscepticn
Bowel obstruction
Testicular torsion
Ectopic pregnancy
Red flags for abdominal pain in children?
Persistent/ bilious vomit
Severe chronic diarrhoea
Fever
Rectal bleeding
Weightloss / faltering growth
Dysphagia
Nighttime pain
Abdominal pain
What is abdominal migraine?
Episodes of central abdominal pain lasting more than an hour
Associated symptoms; nausea, vomiting, anorexia, pallor, headache, photophobia, aura
What is pizotifen used for and what are the concerns?
Prevention of abdominal migraine
Slow stopping as abrupt discontinuation can lead to withdrawal symptoms
Causes of constipation in children?
Idiopathic
Hirschprung’s disease
cystic fibrosis
Hypothyroidism
Presentation of constipation in children?
Less than 3 stools per week
Hard stools that are difficult to pass
Straining and painful passage of stool
Abdominal pain
Rectal bleeding
What is Encopresis?
Faecal incontinence
Considered pathological if after age of 4 years
Usually caused by overstretching of rectum
Causes of encopresis?
Spina bifida
Hirschprung
Cerebral palsy
Learning disability
Psychosocial stress
Abuse
Causes of desensitisation of rectum?
Hirschprung
Cystic fibrosis
Hypothyroidism
Spinal cord lesions
Sexual abuse
Intestinal Obstraction
Anal stenosis
Cow milk protein
Complications of constipation?
Pain
Reduced sensation
Anal fissures
Haemorrhoids
Overflow and soiling
Psychosocial issues
What laxative is used first line for constipation?
Movicol
Red flags for constipation?
Not passing meconium; cystic fibrosis, hirschsprung disease
Neurological signs especially in lower limbs; cerebral palsy, spinal cord lesion
Vomiting; intestinal obstruction, hirschsprungs disease
Ribbon stool; anal stenosis
Abnormal anus; anal stenosis, IBD, sexual abuse
Abnormal lower back/ buttocks; spina bifida, spinal cord lesion
Failure to thrive; coeliac disease, hypothyroidism, safeguarding
Presentation of GORD?
Chronic cough
Hoarse cry
Distress, crying or unsettled after feeding
Reluctance to feed
Pneumonia
Poor weight gain
Causes of vomiting?
Overfeeding
Appendicitis
GORD
UTI, tonsilitis, meningitis
Pyloric stenosis
Gastritis/ gastroenteritis
Intestinal obstruction
Bulimia
Management of GORD?
Small frequent meals
Burping
Not to over-feed
Keep baby upright
Gaviscon mixed with feeds
Thickened milk/ formula
Ranitidine or omeprazole
Surgical fundoplication can be considered in very severe cases
What is Sandifer’s syndrome?
Brief episodes of abnormal movements associated with GORD in infants
torticollis; foreceful contractions of the neck muscles causing twitching of the neck
Dystonia; abnormal muscle contractions causing twisting movements, arching of the back or unusual postures
What is pyloric stenosis
Hypertrophy of the pylorus of the stomach resulting in powerful peristalsis that ultimately pushes food up the oesophagus
Features of pyloric stenosis?
Projectile vomit
Olive shaped mass in abdomen
Failing to thrive
What does blood gas show in pyloric stenosis?
Hypochloric
Metabolic alkalosis
Due to vomiting of stomach acid
Management of pyloric stenosis?
Laparoscopic pyloromyotomy - Ramstedt’s operation
Red flags for vomiting?
Not keeping any feed down; pyloric stenosis, intestinal obstruction
Projectile vomit; pyloric stenosis, intestinal obstruction
Bile stained vomit
Haematemesis, melena
Abdominal distention
Reduced conciousness, bulding fontanelle
What is the most common cause of gastroenteritis in children?
Viral
Differentials in children with diarrhoea?
Infection
IBD
Lactose intolerance
Coeliac disease
Cystic fibrosis
Toddler’s diarrhoea
IBS
Medications
Causes of viral gastroenteritis?
Rotavirus
Norovirus
Adenovirus - more associated with subacute illness
What does E.coli 0157 produce?
Shiga toxin which causes abdominal cramps, bloody diarrhoea and vomiting
What is associated with E.coli 0157 infection?
Shiga toxin destroys red blood cells and can lead to haemolytic uraemic syndrome
Why should antibiotics be avoided if E. coli gastroenteritis is suspected?
Antibiotics increase risk of haemolytic uraemic syndrome
How is E.coli transmitted?
Infected faeces
Unwashed salads
Contaminated water
How is campylobacter jejuni transmitted?
Raw or improperly cooked poultry
Untreated water
Unpasteurised milk
Antibiotic of choice when treating campylobacter jejuni gastroenteritis?
Azithromycin
Ciprofloxacin
Symptoms of campylobacter jejuni gastroenteritis and incubation period?
Incubation; 2-5 days
Symptoms; abdominal pain, diarrhoea, vomiting, fever
Principles of managing gastroenteritis?
Barrier nursing and rigorous infection control
Faecal sample tested with microscopy, culture and sensitivities
Ensure well hydrated status and consider electrolyte replacement with dioralyte
Antidiarrhoeal and antiemetic is not generally recommended
What is coeliac disease?
Autoimmune reaction triggered by exposure to gluten resulting in inflammation in the small bowel
Pathophysiology of coeliac disease?
Exposure to gluten results in autoantibodies created against gluten
Auto antibodies target epithelial cells leading to inflammation
Inflammation leads to malabsorption of nutrients
Presentation of coeliac disease?
Failure to thrive
Diarrhoea
Fatigue
Weightloss
Mouth ulcers
Anaemia secondary to iron, B12, folate deficiency
Dermitis herpetiformis
Genetic associations with coeliac disease?
HLA - DQ2
HLA- DQ8
Auto- antibodies present in coeliac disease?
Tissue transglutaminase- anti- TTG
Endomysial antibodies - anti endomysial
Deaminated gliadin peptide antibodies
Investigations to diagnose coeliac disease?
Bloods; check antibodies when patient is eating gluten
Endoscopy and biopsy
What is seen on biopsy in coeliac disease?
Crypt hypertrophy
Villous atrophy
Diseases associated with coeliac disease?
Type I diabetes mellitus
Thyroid disease
Autoimmune hepatitis
Primary biliary cirrhosis
Primary sclerosing cholangitis
Down’s syndrome
Complications of untreated coeliac disease?
Vitamin deficiency /anaemia
Osteoporosis
Ulcerative jejunitis
Enteropathy- associated T-cell lymphoma of the intestine
Non- Hodgkin lymphoma
Small bowel adenocarcinoma
Extra intestinal manifestations of IBD?
Finger clubbing
Erythema nodorsum
Pyoderma gangrenousum
Episcleritis/ Iritis
Inflammatory arthritis
Primary sclerosing cholangitis (UC)
Investigations performed in IBD?
Bloods
Faecal calprotectin
Endoscopy+ biopsy
Imaging to look for complications
Management of Crohn’s disease?
Induce/ maintain remission;
Steroids; Monitor nutrition, growth
If inadequet response add immunosuppression; first line is azathioprine/ mercaptopurine alternatives are methotrexate, infliximab, adalimumab
When combination of steroids and immunosepressants induce remission continue maintaince therapy
Surgical resection, if disease only affects distal ileum resection can reduce disease flares
Management of ulcerative collitis?
Induce remission for mild to moderate disease;
First line; aminosalicylate
Second line; corticosteroid
Induce remission for severe disease;
First line; IV corticosteroid
Second line; IV ciclosporin
Maintaining remission;
Aminosalicylate, Azathioprine, Mercaptopurine
Surgery
Only affects colon, total pan proctocolectomy with ileostomy or J-pouch can cure disease
What is biliary atresia?
Congenital narrowing of the bile duct resulting in cholestasis
What is the key finding in biliary atresia?
High conjugated bilirubin’
Management of biliary atresia?
Surgery; Kasai portoenterostomy
Sometimes patients require a full liver transplant
Causes of intestinal obstruction?
Meconium ileus
Hirschsprung’s disease
Oesophageal atresia
Duodenal atresia
Intussusception
Malrotation with volvulus
Strangulated hernia
Presentation of intestinal obstruction?
Persistent vomiting, may be bilious
Abdominal pain with distention
Failure to pass stool or wind
Abnormal bowel sounds; high pitched tinkling sounds, may also be absent
Investigations to diagnose intestinal obstruction?
Abdominal Xray
Management of bowel obstruction?
Refferal to surgery
Nil by mouth
Insert NG tube
IV fluids
What is hirschsprung’s disease?
Congenital absence of the nerves of the myenteric plexus in the distal bowel and rectum which affects bowel peristalsis
Pathophysiology of hirschsprung’s disease?
Absence of parasympathetic ganglion cells due to incomplete migration from proximal bowel during embryonic development
Aganglionic section does not under go peristalsis leading to obstruction
Genetic associations of hirschsprung’s disease?
Down’s syndrome
Neurofibromatosis
Waardenburg syndrome
MEN II
Presentation of hirschsprung disease?
Delay in passing meconium
Chronic constipation since birth
Abdominal pain and distention
Vomiting
Poor weight gain and failure to thrive
What is Hirschsprung associated enterocollitis?
Inflammation and obstruction of intesting occuring around 20% of neonates affected with hirschsprung
Presentation of Hirschsprung associated enterocollitis?
2-4 weeks after birth
Fever
Abdominal distention
Diarrhoea often bloody
Can lead to toxic mogacolon
Management of Hirschsprung?
surgical removal of aganglionic bowel
Investigations to diagnose hirschspring’s?
Abdominal x-ray
Rectal biopsy
Associations of Intussusception?
Concurrent viral Illness
Henoch- Schoniein purpura.
cystic fibrosis
Intestinal polyps
Meckel’s diverticulum
Presentation of Intussusception?
Severe colicy abdominal.pain
Pale, lethargic, unwell child
Redcurrent jelly stool
RUQ mass ; Sausage shaped
Vomit
Complications of bowel obstruction?
Obstruction
Gangrenous bowel
Perforation
Death
How is insulin administered in type 1 diabetes?
combination of long acting, given once a day and short acting injected 30 minutes before intake of carbohydrates
What is the name of the Insulin regime?
Basal bolus regime
Basal- long acting, usually taken at night
Bolus - short acting taken around times of meals
Types of insulin pumps?
Tethered pump
Patch pump
What is an insulin pump?
Device that continuously infuses insulin at different rates
Inclusion criteria for use of insulin pump?
Over 12 years
Difficulty controlling HbA1c
What is a tethered insulin pump?
device with replaceable infusion sets and insulin
What is a patch pump?
Sits directly on skin and needs full replacement when pump runs out of insulin
Symptoms of a hypoglycaemic event?
Hunger
Tremor
Sweating
Irritability
Dizziness
Pallor
Reduced conciousness
Management of hypoglycaemia?
Rapid acting glucose such as lucozade and slower acting
Severe cuses can be given IV 10% dextrose or IM glucagon
How is Type I diabetes monitored in children?
HbAlc every 3-6 months in a red top EDTA bottle
Capillary blood glucose or flash glucose monitoring
What is diabetic ketoacidosis?
Life threatening emergency experienced by type 1 diabetics due to absolute lack of insulin
Is a common way for undiagnosed T1DM to present in children
When does ketogenesis occur?
Glucose stores have been exhausted so fatty acids are converted to ketones to be used as fuel
Pathophysiology of diabetic ketoacidosis?
Lack of insulin leads to ketogenesis making blood more acidic, leading to dehydration and potassium imbalance
What happens to the potassium balance in DKA?
Insulin normally drives potassium into cells so in DKA potassium is high
Why are children with DKA at risk of cerebral oedema?
In DKA hyperglycaemia and hyperkalaemia lead to water leaving cells and entering extracellular space, rapid correction of dehydration can cause cerebral oedema
Presentation of DKA?
Polyuria
Polydipsia
Nausea and vomiting
Weight loss
Acetone smell in breath
Dehydration
Altered consciousness
Symptoms of an underlying trigger
What is required for diagnosis of DKA?
Hyperglycaemia; 11mmol/l
Ketosis; >3mmol/l
Acidosis; ph <7.3
Management of DKA in children?
Correct dehydration over 48 hours
Give fixed rate insulin infusion
Avoid fluid bolus, correct potassium, monitor for signs of cerebral oedema
What is adrenal insufficiency?
Lack of steroid hormones produced by the adrenal glands, particularly cortisol and aldosterone
Types of adrenal insufficiency?
Addisons disease; specific type of primary insufficiency as a result of autoimmune attack
Secondary insufficiency; inadequate ACTH secretion from pituitary gland due to hypoplasia of pitutiary, surgery, infection, radiotherapy
Tertiary insufficiency; inadequate CRH release from hypothalamus
Features of adrenal insufficiency in babies?
Lethargy
Vomiting
Poor feeding
Hypoglycaemia
Jaundice
Failure to thrive
Features of adrenal insufficiency in children?
Nausea and vomiting
Poor weight gain/ weight loss
Reduced appetite
Abdominal pain
Muscle weakness/ cramps
Developmental delay/ poor academic performance
Bronze hyperpigmentation
Investigations performed to diagnose adrenal insufficiency?
U+E; hyponatraemia, hyperkalaemia, hypoglycaemia
Synacthen test
Management of adrenal insufficiency?
Replace cortisol; hydrocortisol
Replace mineralocorticoid; Fludrocortisone
Patient is given steroid card and emergency ID tag
Monitoring requirement for children diagnosed with adrenal insufficiency?
Regular review by paediatric specialist to monitor for;
Growth and development
Blood pressure
U+E
Glucose
Bone profile
Vitamin D
How should steroids be adjusted during a time of acute illness?
Increase steroid dose
Has risk of hypoglycaemia so ensure high carbohydrate diet
Presentation of addisonian crisis?
Reduced conciousness
Hypotension
Hypoglycaemia
Management of addisonian crisis?
Parenteral steroids
IV fluids
Correct hypoglycaemia, hyponatraemia, hyperkalaemia
What is congenital adrenal hyperplasia?
Congenital deficiency of 21-hydroxylase enzyme causing an underproduction of cortisol and aldosterone and overproduction of androgens
What is the mode of inheritance of congenital adrenal hyperplasia?
Autosomal recessive
Pathophysiology of congenital adrenal hyperplasia?
21-hydroxylase enzyme is responsible for converting progesterone to aldosterone and cortisol. Hence progesterone is converted into excess amounts of testosterone resulting in low aldosterone and cortisol with high testosterone
Presentation of CAH?
Poor feeding, vomiting, dehydration, arrhythmia, skin hyperpigmentation
Female patients; tall for their age, facial hair, absent periods, deep voice, early periods
Male patients; Tall for age, deep voice, large penis, small testicles, early puberty
Management of CAH?
Hydrocortisone, Fludrocortisone replacement
Females with virilised genitals may require corrective surgery
What is growth hormone deficiency?
Disruption of growth hormone axis
Causes of growth hormone deficiency?
Congenital; GH1 mutation, GHRHR mutation
Empty sella syndrome
Acquired deficiency; infection, trauma, iatrogenic
Presentation of growth hormone deficiency in neonates?
Micropenis
Hypoglycaemia
Severenjaundice
Presentation of growth hormone deficiency in children?
Poor growth, severely slowing from age 2-3
Short stature
Slow development of movement and strength
Delayed puberty
Investigations to diagnose growth hormone deficiency?
Growth hormone stimulation test
MRI
Xray
Genetic test
Management of growth hormone deficiency?
Daily SC growth hormone (somatropin)
Close monitoring of height and development
Symptoms of a UTI in babies?
Fever
Lethargy
Irritability
Vomiting
Poor feeding
Urinary frequency
Symptoms of UTI in children?
Fever
Abdominal pain/ suprapubic pain
Vomiting
Dysuria
Urinary frequency
Incontinence
What is the criteria for diagnosing acute pyelonephritis?
Temperature greater than 38
Loin pain/ tenderness
Investigations to diagnose UTI?
Urine dip; nitrates, leukocytes
Mid stream sample for cultures and sensitivity
Management of UTI in children?
Children under 3 months; IV antibiotics; ceftriaxone
Children over 3 months; oral antibiotics; Trimethoprim, Nitrofurantoin, Cefalexin, Amoxicillin
Investigations for recurrent UTI?
Children under 6 months with first UTI should have USS within 6 weeks
If infected with atypical antibiotics should have USS during time of illness
DMSA scan; 4-6 months from illness to assess damage from recurrent/ atypical UTI
What is vesico-ureteric reflux?
Tendency of urine to flow back from bladder into ureter which increases risk of upper urinary tract infection and subsequent renal scarring
How is vesico-ureteric reflux diagnosed?
Micturating cystourethrogram (MCUG)
Management of vesico-ureteric reflux?
Avoid constipation
Avoid an excessively full bladder
Prophylactic antibiotics
Surgical input from paediatric urology
What is an MCUG?
Used to investigate atypical/ recurrent UTI in children under 6 months
What is vulvovaginitis?
Inflammation and irritation of the vulva and vagina affecting girls between ages of 3 and 10 years
Risk factors for vulvovaginitis?
Wet nappies
Use of chemicals or soaps in cleaning the area
Tight clothing that traps moisture or sweat in the area
Constipation
Threadworm
Pressure on the area, e.g horse riding
Heavy chlorinated pools
How does puberty affect incidence of vulvovaginitis?
Oestrogen keeps vaginal mucosa healthy and restraint to infection
Presentation of vulvovaginitis?
Soreness
Itching
Erythema around the labia
Vaginal discharge
Dysuria
Constipation
How to differentiate UTI and vulvovaginitis?
Urine dipstick will show leukocytes but no nitrates
Management of vulvovaginitis?
No medical management just conservative measures to improve symptoms
Avoid washing with soap and chemicals
Avoid perfumed or antiseptic products
Good toilet hygiene
Keep the area dry
Emollients
Loose cotton clothing
Treat constipation and worms
Avoid activities that worsen problem
What is the most common age for nephrotic syndrome?
2-5 years old
Classic triad for nephrotic syndrome? and other signs and symptoms
Hypoalbuminaemia
Proteinuria
Oedema
De-ranged lipid profile
Hypertension
Hyper-coaguability
Most common cause of nephrotic syndrome in children?
Minimal change disease
Causes of nephrotic syndrome?
Intrinsic kidney disease; Focal segmental glomerulosclerosis, membranoproliferative glomerulonephritis
Secondary causes; Henoch- Schonlein purpura, diabetes, Infections
Pathophysiology of nephrotic syndrome?
Increased permeability of the glomerular basement membrane allowing proteins to leave blood and enter urine
Management of minimal change disease?
High dose steroids (In steroid resistant cases ACE-i and immunosuppressants are used)
Low salt diets
Diuretics
Albumin infusions
Antibiotic prophylaxis in severe cases
What is the regimen of steroids in nephrotic syndromes?
High dose steroids given for 4 weeks and slowly weened over the next 8 weeks
Complications of nephrotic syndrome?
Hypovolaemia
Thrombosis
Infection
Acute/ chronic renal failure
Relapse
What is nephritis?
Inflammation of the nephrons of the kidney
Triad of nephritic syndrome?
Haematuria
Hypertension
Protienuria
Common cause of nephritic syndrome in children?
Post-streptococcal glomerulonephritis
IgA nephropathy (Berger disease)
Pathophysiology of post-streptococcal glomerulonephritis?
1-3 weeks following infection with beta haemolytic streptococcus
Streptococcal antigen immune complexes, antibodies and complement proteins attach to kidney glomeruli and cause inflammation leading to acute kidney injury
What is IgA nephropathy?
AKA Berger’s disease where IgA deposits in nephrons of the kidney leading to inflammation
What is seen on biopsy in IgA nephropathy?
IgA deposits
Glomerular mesangial proliferation
Management of nephritic syndrome?
Supportive treatment
Antihypertensive
Immunosuppression; steroids and immunosuppresants
What is haemolytic uraemic syndrome?
Thrombosis within small vessels throughout the body triggered by the shiga toxin
Triad of Haemolytic uraemic syndrome?
Haemolytic anaemia
AKI
Thrombocytopenia
Aetiology of haemolytic uraemic syndrome?
Shiga toxin
Most commonly produced by E.coli 0157, shigella
Signs and symptoms of haemolytic uraemic syndrome?
Reduced urine output
Haematuria
Abdominal pain
Lethargy and irritability
Confusion
Oedema
Hypertension
Bruising
Prognosis of haemolytic uraemic syndrome?
Medical emergency and 10% mortality
Management of HUS?
Antihypertensives
Maintain fluid balance
Blood transfusion and dialysis if required
By what age do children have control over urination?
Daytime; 2 years
Night time; 3-4 years
What is primary nocturnal enuresis?
When a child has never managed to be consistently dry at night
Causes of primary nocturnal enuresis?
Variation on normal development
Overactive bladder
Fluid intake prior to bedtime
Failure to wake due to deep sleep or underdeveloped bladder signals
Psychological distress
Secondary causes
Investigations to manage enuresis?
2 week diary of toileting, fluid intake, bedwetting episodes
Management of primary nocturnal enuresis?
Reassurance in children under 5 years
Lifestyle changes; reduce fluid intake before bed, go to toilet before sleeping
Encouragement and positive re-inforcement
Treat underlying cause and exacerbating factors
Enuresis alarms
Pharmacological treatment
What is secondary nocturnal enuresis?
A child who has previously been dry at night for atleast 6 months begins bed wetting
Causes of secondary nocturnal enuresis?
UTI
Constipation
T1DM
New psychosocial problems
Maltreatment
What is diurnal enuresis?
Daytime incontinence
Causes of diurnal enuresis?
Urge incontinence
Stress incontinence
Recurrent UTI
Psychosocial problems
Constipation
Medical management of enuresis?
Desmopressin
Oxybutynin
Imipramine
Which type of polycystic kidney disease presents in children?
Autosomal recessive
Cause of ARPKD?
Mutation in polycystic kidney and hepatic disease 1 (PKHD 1) gene on chromosome 6 which codes for fibrocystin/ polyductin protein complex which creates tubules and maintains healthy epithelium in kidney, liver and pancreas
Features of ARPKD?
Cystic enlargement of renal collecting duct
Oligohydramnios
Pulmonary hypoplasia
Potter syndrome
Congenital liver fibrosis
Usually can can polycystic kidneys on antenatal scans
What causes potter syndrome?
Oligohydramnios
Characteristics of Potter syndrome?
Underdeveloped ear cartilage
Low set ears
Flat nasal bridge
Skeletal abnormalities
Prognosis of ARPKD?
Poor; around 1/3 will die as a neonate and 1/3 will not make it to adulthood
Oligohydramnios leads to poor development of lungs
Large cystic kidneys take up too much space and make breathing difficult
Many require dialysis in first few days of life and then are in end stage renal failure before reaching adulthood
Co-morbidities associated with ARPKD?
Liver failure
Portal hypertension
Progressive renal failure
Hypertension
Chronic lung disease
What is Wilms tumour?
Tumour of kidneys affecting children usually under the age of 5
Presentation of Wilms tumour?
Abdominal pain
Haematuria
Lethargy
Fever
Hypertension
Weight loss
Investigations for Wilms tumour?
Ultrasound scan
CT/ MRI; staging
Biopsy; histology and make definitive diagnosis
Management of Wilms tumour?
Surgical excision and adjuvant therapy
What is a posterior urethral valve?
Tissue at the proximal end of the urethra causes obstruction to urine output creating back pressure into the bladder, ureters and up to kidney causing hydronephrosis
Presentation of posterior urethral valve?
Difficulty urinating
Weak urinary stream
Chronic urinary retention
Palpable bladder
Recurrent UTI
Impaired kidney function
In severe cases can cause bilateral hydronephrosis in-utero and is seen on USS
Investigations to diagnose posterior urethral valve?
Abdominal USS; enlarged thickened bladder, bilateral hydronephrosis
MCUG; shows location of extra-urethral tissue
Cystoscopy
Management of posterior urethral valve?
Ablation/ removal of excess tissue
Risk factors for undescended testes?
Family history
Low birth weight, SGA, Premature
Maternal smoking during pregnancy
At what age is referral needed for undescended testes?
6 months
Management of undescended testes?
Orchidopexy
What is hypospadias?
Urethral meatus is abnormally displaced posteriorly on the penis
Management of hypospadias?
Do not circumsise infant until urologist has seen
Surgical correction
Complications of hypospadias?
Difficulty directing urination
Cosmetic/ psychological concerns
Sexual dysfunction
Differentials for scrotal swelling?
Hydrocele
Partially descended testes
Inguinal hernia
Testicular torsion
Haematoma
Tumour
What is a hydrocele?
Collection of fluid in tunica vaginalis
Types of hydrocele?
Simple hydrocele fluid collection is reabsorbed over time
Communicating hydrocele; connection between peritoneum and scrotum called processus vaginalis allows fluid to collect in testes
Management of hydrocele?
Most resolve spontaneously
For large; surgical ablation of processus vaginalis
Issues surrounding neonatal resuscitation?
Large surface area to weight ratio so get cold quickly
Babies are born wet so lose heat rapidly
Babies born through meconium may have it in their mouth/ airway
Principles of neonatal resuscitation?
Warm the baby
Calculate APGAR score
Stimulate breathing
Inflation breaths
How can the baby be kept as warm as possible after delivery?
Dry baby as quickly as possible, vigorous drying can help stimulate
Place under heat lamps
Babies under 28 weeks are placed in plastic bag
How can breathing be stimulated in the neonate?
Keep head in neutral position to keep airway open
Place towel under shoulders
How are inflation breaths provided to neonate?
When neonate is gasping or not breathing despite stimulation
Two cycles of 5 inflation breaths lasting 5 seconds, if no response then 30 seconds of ventilation breaths, if still no response then start chest compressions coordinated with ventilation breaths
What is the APGAR score?
Score ranging from 0 to 10 rating 5 features of newborn
Appearance
Pulse
Grimmace
Activity
Respiration
What are the benefits of delayed umbilical cord clamping?
Placental transfusion, can help improve iron stores, improve blood pressure, reduction in intraventricular haemorrhage and reduction in necrotising enterocollitis
What are the negatives of delayed cord clamping?
Risk of neonatal jaundice requiring phototherapy
What happens to the neonates straight after birth?
Skin to skin
Clamp umbilical cord
Dry the baby
Keep baby warm with hat and blanket
Vitamin K injection
Label baby
Measure height and weight
Why is vitamin K given to newborn?
Vitamin K is needed for clotting and babies are born deficient
Helps reduce haemorrhage, especially through umbilical stump
Benefits of skin to skin contact?
Keeps baby warm
Improves mother and baby interaction
Calms baby
Improves breast feeding
When is the NIPE completed?
Within 72 hours from birth
When is the blood spot screening test completed?
day 5, maximum day 8
What conditions are screened for in the heel prick test?
Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism
Phenylketonuria
Medium chain acyl- CoA dehydrogenase deficiency
Maple syrup urine disease
Isovaleric acidaemis
Glutaric aciduria type 1
Homocystin
How long do results of heel prick test take?
6-8 weeks
When is the NIPE examination performed?
72 hours post birth
6-8 weeks by GP
What is the purpose of the NIPE examination?
Pick up abnormalities in the newborn
What is caput succedaneum?
Fluid collection in the scalp outside the periosteum due to pressure on a specific area on the scalp during traumatic, prolonged or instrumental delivery
Management of caput succedaneum?
Nothing, usually resolves in a few days
What is a cephalohaematoma?
Collection of blood between skull and periosteum caused by damage to blood vessels during traumatic, prolonged or instrumental delivery
How is caput succedaneum differentiated from cephalohaematoma?
In cephalohaematoma does not cross suture lines and causes discolouration of affected skin
Management of cephalohaematoma?
Usually resolves over a couple of months
Monitor for anaemia and jaundice
What is facial paralysis?
Birth injury usually associated with forceps delivery due to facial nerve injury
Prognosis of facial paralysis as a result of birth injury?
Function returns to normal in a couple of weeks
If function does not return, then referral to neurologist is needed
What is Erb’s palsy?
Injury to C5/C6 nerves of the brachial plexus during birth
Risk factors for Erb’s palsy?
Shoulder dystocia
Traumatic birth
Instrumental delivery
Large birth weight
Presentation of Erb’s palsy?
Weakness of shoulder abduction and external rotation, arm flexion and finger extension leading to waiter tip appearance
Prognosis of Erb’s palsy?
Function returns spontaneously within a few months
If not then specialist input may be required
Risk factors for clavicle fracture?
Shoulder dystocia
Traumatic delivery
Instrumental delivery
Large birth weight
Signs on examination indicating fractured clavicle?
Noticeable lack of movement/ asymmetry of movement in the affected arm
Asymmetry of the shoulders with affected shoulder lower than normal
Pain and distress on movement of the arm
What is neonatal sepsis?
Infection in neonatal period
Causative agents of neonatal sepsis?
Group B streptococcus
E.coli
Listeria
Klebsiella
Staphylococcus aureus
Risk factors for neonatal sepsis?
Vaginal GBS colonisation
GBS sepsis in previous baby
Maternal sepsis, chorioamnionitis, fever over 38
Prematurity
Premature rupture of membranes
Prolonged rupture of membranes
Features of neonatal sepsis?
Fever
Reduced tone and activity
Poor feeding
Respiratory distress
Vomiting
Tachycardia/ Bradycardia
Hypoxia
Jaundice within 24 hours
Seizures
Hypoglycaemia
Red flags for neonatal sepsis?
Confirmed/ suspected sepsis in mother
Signs of shock
Seizures
Term baby needing mechanical ventilation
Respiratory distress staring more than 4 hours after birth
Presumed sepsis in another baby in a multiple pregnancy
Management of neonatal sepsis?
one RF for sepsis; monitor for 12 hours
two or more RF or red flag start antibiotics
Take blood cultures before antibiotics
Baseline FBC and CRP
Antibiotic of choice for neonatal sepsis?
Benzylpenicillin, gentamycin
Cefotaxime can be used in lower risk
Monitoring requirements for neonatal sepsis?
CRP in 24 hours
Blood cultures in 36 hours
Repeat CRP at 5 days
What is hypoxic ishcaemic encephalopathy?
Neurological malfunction as a result of hypoxia during child birth resulting in ischaemic damage to the brain tissue which can lead to permanent neurological damage
When should you suspect hypoxic ishcaemic encephalopathy?
Events during perinatal/ intrapartum period which could lead to hypoxia
Acidosis in umbilical artery blood gas
Poor APGAR score
