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.
