Pediatrics Flashcards
hydrops foetalis is a
- condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments.
- including ascites, pleural effusion, pericardial effusion, and skin edema.
- In some patients, it may also be associated with polyhydramnios and placental edema.
Fetal hydrops occurs in:
Hematological disorders
Lysosomal diseases
Disorders of steroid metabolism
name 2
Hematological disorders
G6PD deficiency
Pyruvate kinase deficiency
defiene
G6PD deficiency
- Glucose-6-phosphate dehydrogenase deficiency (G6PDD), which is the most common enzyme deficiency worldwide
- is an inborn error of metabolism that predisposes to red blood cell breakdown (hemolysis).
- Most of the time, those who are affected have no symptoms.
- Following a specific trigger, symptoms such as yellowish skin, dark urine, shortness of breath, and feeling tired may develop.
- Complications can include anemia and newborn jaundice.
- Glucose-6-phosphate dehydrogenase is an enzyme which protects red blood cells, which carry oxygen from the lungs to tissues throughout the body.
- A defect of the enzyme results in the premature breakdown of red blood cells.
Coombs test
- is an immunological test used to detect antibodies that bind antigens found on red blood cells.
- A positive Coombs test in a patient with hemolysis is a sign of immunological hemolytic anemia.
atypical hemolytic uremic syndrome →
→ in this syndrome, there is uncontrolled activation of the complement system, which causes damage to the endothelium, platelet aggregation and thrombosis in the microcirculation
- this process leads to the destruction of erythrocytes and normocytic anemia , the destruction of blood cells is not caused by antibodies.
define
Carney complex
- rare genetic disorder characterized by multiple benign tumors (multiple neoplasia) most often affecting the heart, skin and endocrine system and abnormalities in skin coloring (pigment) resulting in a spotty appearance to the skin of affected areas.
Carney syndrome →
symptoms
→ it is a genetic syndrome with many components such as:
- obesity above the waist (but with thin arms)
- round face, skin changes
- weak bones and muscles
- slow growth rate in children
- micronodular hyperplasia of the adrenal glands
- myxomas of the skin, heart and mammary glands
- occurrence of light brown spots on the skin
- testicular tumors
- other endocrine disorders, e.g. acromegaly it is a genetic syndrome with many components such as:
What causes Carney complex?
- caused by an inactivating mutation of the PRKAR1A gene (chromosome 17q22-24) encoding the regulatory subunit 1 of kinase A
- This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation).
DiGeorge syndrome
→ it is a congenital defect causing disturbances in the development of the thymus gland, which in embryonic development develops from the same gill pouch as the parathyroid glands.
- DiGeorge syndrome results in hypoparathyroidism.
type 1 autoimmune polyendocrinopathy syndrome
→ it is an autosomal recessively inherited polyglandular hypofunction syndrome caused by a mutation of the AIRE gene responsible for the regulation of immune tolerance; the team consists of:
- treatment-resistant mucosal candidiasis
- hypoparathyroidism
- adrenal insufficiency
maternal hyperparathyroidism during pregnancy
→ fetal complications associated with maternal hyperparathyroidism include intrauterine fetal growth restriction, low birth weight, premature delivery, intrauterine death, miscarriages, and neonatal tetany.
- Hypocalcemia may occur in newborns of mothers with hyperparathyroidism due to suppression of PTH secretion by the newborn’s parathyroid glands (hypoparathyroidism).
CaSR inactivating mutation
→ Ca-SR inactivating mutations cause blockage of signal transfer to parathyroid cells, which leads to excessive PTH synthesis, which is the cause of symptoms of hyperparathyroidism .
Mutations occur in two disease entities:
- Familial benign hypocalciuric hypercalcemia (FBHH, FHH)
- Severe neonatal hyperparathyroidism (NSHPT, FNHP)
in 80% of children , acute pharyngitis and tonsillitis is caused by
viruses
- Most often, these are rhinoviruses, adenoviruses, and coronaviruses.
- If bacterial etiology is suspected, most often it is B-hemolytic streptococcus from group A
Streptoccocus pyogenes , and in these few cases antibiotic therapy is indicated.
the incubation period of hepatitis A in children is
14-42 days
According to Pediatrics Kawalec, factors that may disturb fetal growth include:
- young mother’s age (under 16 years of age)
- mother’s body weight deficiency before pregnancy and too little weight gain during pregnancy
- obesity or too much weight gain during pregnancy
- deficiencies in maternal nutrition , especially deficiency of protein, calcium, iron, B vitamins, including folic acid (vitamin B9 )
- mother’s diseases - hypertension, hyperthyroidism, pre-pregnancy and gestational diabetes , chronic diseases of the respiratory and circulatory system (hypoxia of the mother’s body and the fetus)
- some medications and psychoactive substances taken during pregnancy
- fetal development defects
Pharmacotherapy is considered in patients with recurrent syncope despite education and lifestyle modifications. The drugs used include:
fludrocortisone
alpha-adrenergic receptor agonists
β-receptor blockers (propranolol, metoprolol)
Cystic fibrosis is a congenital dysfunction of the
- chloride channel
Cystic fibrosis is a congenital dysfunction of the chloride channel
-There is a decrease in ?
- There is a decrease in chlorine secretion and an increase in sodium absorption into cells, which leads to ionic disturbances and dehydration of the secretion of exocrine glands.
name 5 conditions
children with cystic fibrosis more often than healthy children develop ?
1) bronchiectasis may occur;
2) cholestasis and gallstones may occur;
3) sinusitis and nasal polyps may occur;
Cystic fibrosis is a genetic disease, inherited in an
- autosomal recessive manner.
- The cause is mutations in the gene encoding the membrane protein CFTR , which is a chloride channel.
- The absence or incorrect structure of this protein causes blocking or impairment of the transport of chlorine from the cell and increases the absorption of sodium into the cell , which reduces the water content in the secretion of the exocrine glands.
- Too thick secretion is produced, which causes many ailments, mainly in the respiratory and digestive systems
Cystic fibrosis
Changes in the respiratory system:
- Increased secretion of thick mucus prevents proper cleansing of the respiratory tract, and the high concentration of NaCl and change in the pH of the fluid reduce the antibacterial properties, which is the cause of chronic infections .
- Atelectasis, dilation and cysts appear .
- Chronic inflammation of the nasal mucosa and paranasal sinuses develops with the presence of polyps
Cystic fibrosis
Changes in the digestive system:
- They mainly affect the pancreas, where pancreatic fluid stagnates and its pH drops, which in turn causes activation of proteolytic enzymes and inflammation, followed by fibrosis and exocrine insufficiency, and over time also endocrine failure.
- Due to impaired bile secretion in the liver , cholestasis, biliary cirrhosis and cholelithiasis occur.
- Meconium ileus may occur in infants - thick meconium blocks the intestinal lumen, meconium does not pass in the first days of life, and symptoms of obstruction appear.
Cystic fibrosis
Tuberculosis is an infectious disease caused by
- bacillus Mycobacterium tuerculosis.
Tuberculosis
The most common route of infection is the
respiratory tract (95%), less often the alimentary tract.
Tuberculosis
Children most often become infected from
- adults in the household
Tuberculosis
The incubation period from the day of infection to the appearance of a positive tuberculin test is
2-12 weeks
Tuberulosis
Factors predisposing to infection are:
- young age of the child, especially infancy ( we can subtract subpart B here , I didn’t find the specific age)
- pubertal age
- immunodeficiency (especially that caused by HIV syndrome)
- drug-induced immunosuppression
- diseases that impair immunity
- poor nutritional status
- recovery period
Tuberculosis
The incubation period from the day of infection to the appearance of a positive tuberculin test is 2-12 weeks. Most often, after infection, the disease enters a
- a latent (inactive) state and after some time, usually 6 months to 2 years, the disease becomes active.
Tuberculosis
Mycobacterium infection progresses into an active disease much more easily in
- infants and young children than in adults.
- Unlike adults, children suffer from the oligomycobacterial form, which is usually not infectious
Tuberculosis- in children
diseases that impair immunity
- Hodgkin’s disease
- lymphocytic leukemia
- diabetes
- chronic renal failure (end-stage renal failure requires dialysis )
Diagnosing tuberculosis in children is difficult, the younger the child, the more non-specific and general symptoms there are. Most often, tuberculosis is diagnosed in children secondary to its diagnosis in adult family members. Tests to detect active tuberculosis:
- bacteriological (staining of sputum samples using the Ziehl-Neelsen method to visualize mycobacteria, cultures of gastric lavage, in certain cases urine, CSF)
- PCR tests
- radiological
- invasive, i.e. bronchoscopy
- biopsy of organs suspected of tuberculous lesions.
Tuberculosis
Tests that detect infection in the latent stage:
- tuberculin test - We administer 2 units of tuberculin intradermally and the result is read after 48-72 hours, in Poland a positive result >=10mm in unvaccinated children, <=15 in vaccinated children, while in the UK an infiltration of >=5 is considered positive
- IGRA test (C) - Interferon gamma release test as a result of the immune response to antigens specific for M. tuberculosis.
- They have an advantage over the tuberculin skin test because vaccinations do not influence the results.
- IGRA tests are less sensitive in children <5 years of age.
- It is recommended to perform the tuberculin skin test and the IGRA test; a positive result of one of them is the basis for confirming infection
Tuberculosis in children
Treatment involves the use of
- 3 or 4 drugs ( rifampicin, isoniazid, pyrazinamide and ethambutol ).
Tuberculosis
- After 2 months, we limit the treatment to
- two drugs: rifampicin and isoniazid .
Tuberculosis
Treatment of uncomplicated tuberculosis usually lasts about
- 6 months, disseminated tuberculosis, osteoarticular tuberculosis, and death longer.
Tuberculosis TX in adolescents:
- pyridoxine
- vitamin B 6 , is additionally used (to prevent peripheral neuropathy), and in children with dementia, dexamethasone .
age & reason
Tetracyclines (doxycycline) should be avoided in children under
- 12 years of age
- because there is a risk of permanent discoloration and damage to teeth
- or a delay in skeletal development
lyme disease
Antibiotics that are safe for children and effective against Borrelia burgdorferi (erythema migrans ) include
amoxicillin
azithromycin
clarithromycin
cefuroxime axetyl
symptoms ( low fever, dry cough ) and changes in the physical examination ( single rales ) and imaging ( interstitial changes and enlargement of the lung lymph nodes ) suggest
- atypical pneumonia (Chlamydia pneumoniae, Mycoplasma pneumoniae).
Child (14 yr)
atypical pneumonia (Chlamydia pneumoniae, Mycoplasma pneumoniae).
- The drug of first choice in such an infection are
macrolides:
clarithromycin or azithromycin
12-year-old suffering from nausea, vomiting, pain during micturition radiating to the left groin and pain in the left lumbar region since the morning. Physical examination revealed abnormalities in the abdominal cavity and a positive Goldflam sign on the left side. Laboratory tests showed normal blood count and kidney function parameters, elevated CRP, and erythrocyturia in general urine test. Ultrasound of the abdominal cavity showed left-sided hydronephrosis, the left ureter was not visible. The correct diagnosis is:
Urinary tract stones
Acute pancreatitis
AP is a consequence of an infection ascending from the
- lower urinary tract
- The clinical picture varies: from cystitis to urosepsis.
- pain in the lumbar region
- positive Goldflam sign
- nausea and vomiting
- indicator of renal parenchymal involvement would be a fever above 38.5 degrees
- In general urine examination: we observe significant bacteremia and leukocytosis in morphology.
markers for monitoring the cytokine storm are
Cytokine release syndrome (CRS) sometimes called cytokine storm
IL-6, ferritin, LDH, D-dimer.
also known as
hypercytokinemia
- A cytokine storm
- is a physiological reaction in humans and other animals in which the innate immune system causes an uncontrolled and excessive release of pro-inflammatory signaling molecules called cytokines.
- Normally, cytokines are part of the body’s immune response to infection, but their sudden release in large quantities may cause multisystem organ failure and death.
A 3-year-old boy was admitted to the emergency room due to high fever > 39.5°C lasting the second day, abdominal pain, apathy, lack of appetite and unpleasant urine odor. A general urine test showed leukocyturia and the presence of nitrites. Indicate the correct action:
- High fever >38.5°C and abdominal pain suggest acute pyelonephritis
- unpleasant urine odor indicates inflammation of the urinary bladder and urethra.
- Inflammation in children may result in apathy, loss of appetite and vitality of the child.
The most common pathogen of urinary tract infections is E. coli.
A 3-year-old boy was admitted to the emergency room due to high fever > 39.5°C lasting the second day, abdominal pain, apathy, lack of appetite and unpleasant urine odor. A general urine test showed leukocyturia and the presence of nitrites.
The drugs of choice is?
The drugs of choice in OOZN are :
- cephalosporins
- amoxicillin with cavulanic acid
- piperacillin with tazobactam
- aminoglycosides
- The route of administration depends on the patient’s clinical condition.
Wilms tumor
(nephroblastoma)
originates from the germ cells of the kidney and is the most common kidney tumor in children
Neuroblastoma (NBL) and related tumors arise from the
- primary neural lamina, which forms the adrenal medulla and the sympathetic nervous system
- Classically, the starting point of an abdominal tumor is the adrenal medulla
non-Hodgkin’s lymphoma
- B-cell tumors more often present as NHL [non-Hodgkin’s lymphoma], with enlarged lymph nodes in the head and neck or abdominal cavity
Medulloblastoma
(medulloblastoma, approx. 20%) are located in the midline of the posterior cranial fossa
dysgerminoma
- Germ cell tumors (GOT) can be both benign and malignant.
- They develop from primitive reproductive cells that migrate from the yolk sac to form the gonads of the fetus.
- Benign tumors most often appear in the sacrococcygeal area , while malignant tumors are usually located in the gonads .
X-ray image and probable etiology of infection:
Streptococcus pneumoniae
- lobar pneumonia
X-ray image and probable etiology of infection:
Staphylococcus aureus
- multifocal lesions, abscesses, emphysematous blisters
X-ray image and probable etiology of infection:
atypical bacteria
- interstitial, perihilar, band-shaped inflammatory changes, possibly peripheral distension, possibly fluid in the pleura,
X-ray image and probable etiology of infection:
viruses
- bronchial, interstitial, bilateral, airy lesions,
X-ray image and probable etiology of infection:
whooping cough
- the image of a “tent”,
X-ray image and probable etiology of infection:
pneumonia complicated by pleural empyema
- most often S. pneumoniae, S. aureus , Streptococcuspyogenes
- The presence of abscesses, emphysematous bullae, pneumothorax and empyema in the radiological image of the child’s lungs supports the diagnosis of
staphylococcal pneumonia
In the course of iron deficiency anemia the following are observed
1) a decrease in the average concentration of hemoglobin in the blood - this is one of the basic changes in the blood count of people suffering from anemia.
2) erythrocyte poikilocytosis
erythrocyte poikilocytosis
- poikilocytosis is a phenomenon of the presence of blood cells of different shapes.
- In the case of anemia, anisocytosis, or the presence of blood cells of different sizes, may also appear.
Crede’s procedure:
Prophylaxis of gonococcal conjunctivitis - prophylaxis involves the use of
- 1% silver nitrate solution (Crede’s procedure) or
- 0.5% erythromycin in ointment
or - solution or 1% tetracycline solution or ointment.
Note: Every child after birth – including newborns born by caesarean section –
is given gonococcal conjunctivitis prophylaxis. Currently, 0.5% erythromycin ointment
Inhaled glucocorticosteroids
Therapeutic procedures for subglottic laryngitis:
Mild croup
- dexamethasone: 0.15 mg/kg bw (max: 8 mg) intramuscularly or orally
or - budesonide: 2 mg nebulized
Inhaled glucocorticosteroids
Therapeutic procedures for subglottic laryngitis:
Croup moderate
- dexamethasone: 0.3 mg/kg bw (max: 8 mg) intramuscularly or orally
and/or - budesonide: 2 mg in nebulization
and/or - 0.1% epinephrine in nebulization: 0.5 ml/kg bw (max: 5 ml)
Inhaled glucocorticosteroids
Therapeutic procedures for subglottic laryngitis:
Heavy groats
- 0.1% epinephrine in nebulization: 0.5 ml/kg bw (max: 5 ml) (first)
and - dexamethasone: 0.6 mg/kg bw (max: 8 mg) intramuscularly
and/or - budesonide: 2 mg in nebulization
diagnosis of IgA-related vasculitis:
(formerly Schönlein–Henoch disease ):
- the development of the disease is often preceded by an upper respiratory tract infection ;
- a typical and obligatory symptom of the disease is a rash - it appears symmetrically on both buttocks, extensor surfaces of the arms and lower legs and around the ankle joints; skin lesions are maculopapular, then hemorrhagic , palpable under the fingers when palpating the skin;
- joint pain, especially in the knee and ankle joints, occurs in 2/3 of patients;
- more than 80% of patients have micro- or macroscopic hematuria with moderate proteinuria .
Additionally, patients with Schönlein–Henoch disease may experience colicky abdominal pain .
Acute bronchiolitis
Treatment
Acute bronchiolitis is self-limiting and the most important thing is to ensure
proper?
- hydration and nutrition of the child, and in case of SpO2 < 90% – inclusion of oxygen therapy . The
use of :
1) antibiotic therapy,
2) ribavirin or anti-RSV antibodies,
3) glucocorticosteroids,
4) bronchodilators (beta-mimetics, adrenaline),
5) 3% NaCl in nebulization – used only in hospitalized patients,
6) physical therapy.
The clinical picture presented in the question corresponds to Alport syndrome :
- a genetically determined syndrome - inherited in a recessive manner linked to the X chromosome;
- leads to progressive end-stage renal disease in young male adults;
- coexists with neurosensory deafness and visual impairment
Alport Syndrome
Definition
- HEREDITARY NEPHROPATHY caused by disturbances in the synthesis of α chains of type IV collagen, which leads to damage to the structure of the BASEMENT MEMBRANE of the renal glomeruli and disturbances in the organ of HEARING and VISION .
- In 85% of cases the sex-linked form (XLAS) – the full-blown form occurs in men , women are healthy carriers or have a mild disease.
- It is the most common congenital progressive kidney disease.
Its incidence is 1/10,000 live births.
Alport Syndrome
Symptoms
1) End-stage renal disease in all men and 15% of women.
2) Sensorineural hearing loss , which in some patients leads to deafness before the age of 40.
3) Half of patients develop ocular symptoms
during adolescence (keratoconus, macular abnormalities).
4) Urine test: hematuria , proteinuria.
Urin test
Alport Syndrome
- *Hematuria *Hematuria is a dominant symptom of Alport syndrome, which is present from birth or appears in the 1st year of life.
- Proteinuria appears after several years with the progression of kidney disease and in 30% of patients leads to the development of nephrotic syndrome .
Alport Syndrome
Treatment
- Treatment is symptomatic only (ACEI may be used to reduce proteinuria) .
Kidney transplant.
Landau reflex
- is elicited by holding the infant horizontally in the air with the face turned to the ground.
- The infant should lift the head up, then arch the trunk and straighten the lower limbs at the hip joints.
- The Landau reflex is present from 5 months of age and may persist until 3 years of age
Lust’s sign
- is a contraction of the peroneal muscles and abduction of the foot in response to a percussion hammer on the common peroneal nerve (below the head of the fibula).
- It indicates excessive neuromuscular excitability and is one of the symptoms characteristic of tetany .
Levine’s sign
- is a symptom found in patients after myocardial infarction or with unstable angina , which consists of pointing to the sternum with a clenched fist when describing the location of pain.
Lasègue’s sign
- is a symptom of inability to raise the lower limb in a lying position. It indicates compression of the sciatic nerve.
- In addition, it may be accompanied by difficulty in raising the hips and the whole body from a lying position with the lower limbs straight, caused by the pain that occurs at that time.
- The patient can perform this activity only after previously bending the legs at the knee joints. Lasègue’s sign is characteristic of sciatica .
It has two varieties:
- the first consists of the occurrence of pain along the straight lower limb during its passive lifting;
- the second is elicited by flexing the limb at the hip and knee joints and then straightening it; similarly, a positive symptom is indicated by the occurrence of sudden pain along the limb
Leigh syndrome (subacute necrotizing encephalomyelopathy):
- is a rare, etiologically heterogeneous mitochondrial disease associated with a disturbance in ATP production in mitochondria ;
- it may result from mutations in both mitochondrial and nuclear genetic material, since both contain sequences encoding enzyme proteins involved in mitochondrial metabolism.
- Oxidative decarboxylation of pyruvate, electron transport in the respiratory chain, or ATP production by ATP synthase may be impaired;
- It appears at the age of 3-24 months and progresses rapidly ;
Leigh syndrome (subacute necrotizing encephalomyelopathy)
the clinical picture includes symptoms on the part of :
- nervous system - encephalomyelopathy ,
- skeletal muscles,
- hearts - hypertrophic cardiomyopathy is common ,
- liver,
- kidneys;
- Plasma lactate and pyruvate levels are elevated , leading to metabolic acidosis .
Glomerulopathies
Idiopathic Nephrotic Syndrome - Diagnostics - Laboratory tests
1) General urine test – proteinuria , rarely hematuria.
2) Assessment of the extent of proteinuria – 24-hour urine collection for protein or protein/creatinine ratio
(or albumin/creatinine) in a morning urine sample.
3) Reduced total protein level and hypoalbuminemia, dysproteinemia.
4) Hypercholesterolemia and hypertriglyceridemia.
Glomerulopathies
Idiopathic Nephrotic Syndrome - Laboratory tests
ratio
(or albumin/creatinine) in a morning urine sample.
- Taking a urine sample in the morning, immediately after a night’s rest, allows for the exclusion of orthostatic proteinuria (increased protein excretion after standing), which is a benign condition that does not require treatment and, according to some researchers [ 1 ], is even considered a variant of the norm.