congenital/metabolic disorders Flashcards
esophageal atresia tx
surgical;
pulmonary aspiration should be prevented in the interim by suction and withholding of oral feedings
what is esophageal atresia assoc with
tracheoesophageal fistulae
what is atresia
describe esophageal atresia
how to dx
absence or closure of an opening
atresia presents in newborns as excessive saliva and choking or coughing with attempts to feed
inability to pass an NG tube will establish diagnosis
bowel sounds heard in chest
diaphragmatic hernia: immediate respiratory distress
what is pyloric stenosis
gender affected
gastric outlet obstructed by pyloric hypertrophy.
affects males mainly. 5 times more likely
olive shaped mass on abdominal exam; shortly after vomiting
pyloric stenosis
string sign on barium swallow
pyloric stenosis
tests for pyloric stenosis
ultrasonography will demonstrate the lesion
and barium swallow shows delayed emptying and a “string sign”
where does bowel atresia most commonly occur
occurs when
ileum
occurs in the first few days of life
what causes hirschsprungs disease
congenital absence of Meissner’s and Auerbach’s autonomic plexuses innervating the bowel wall
diaphramatic hernia in a newborn
causes what
dx/imaging
tx
causes immediate respiratory distress in the newborn b/c the affected lung is compressed by the pressure from abdominal contents
dx made by bowel sounds heard in chest
xray show loops of bowel involved in the hemithorax, with displacement of the heart and mediastinal structures
tx is surgery
immediate intubation and ventilation is required, along with suction of the stomach by NG tube
progressive, non bilious, often projectile vomiting in a child that remains hungry
pyloric stenosis
pyloric stenosis
ages
2 symptoms (not the olive mass)
4-6 weeks of age
wt loss and dehydration
hirschsprungs disease
sx
tx
constipation or obstipation
vomiting, failure to thrive
tx is surgical resection of the affected bowel
screening in phenylketonuria
screening at birth is simple and allows early detection and management;
delay in diagnosis(after age 3 years) will lead to irreversible brain damage
what is phenylketonuria
common?
hereditary?
rare autosomal recessive inability to metabolize the protein phenylalanine
what is phenylalanine
accumulate in the central nervous system, causing mental retardation and movement disorders
what is obstipation
inability to pass stools or gas
management of phenylketonia
low phenylalanine diet and tyrosine supplementation
strict control of protein intake is required for life
breast milk is low in phenylalanine
lactose
describe production
age
country
digested by lactase
produced in the small intesting
persistance of lactase production past the age 12 years is common in northern european populations
.what is kernicterus
cerebral dysfunction and encephalopathy,
due to bilirubin deposition in brain tissue, >20
.describe neonatal jaundice
jaundice presents on days 3-5 and bilirubin levels fall in about 50% of neonates in the first week of life
.what is dubin-johnson syndrome
think 3 Ds
what is rotor syndrome
hereditary conjugated direct hyperbilirubinemia due to decreased hepatocyte excretion of conjugated bilirubin. gene mutation.
dublin, direct bilirunemia, dark liver(black)
rotor similar but no black liver
.what is crigler najjar syndrome
hereditary unconjugated(indirect) hyperbilirubinemia due to no or little ugt activity.
ugt is needed to convert indirect bilirubin
.what is gilberts syndrome
hereditary unconjugated bilirubin hyperbilirubinemia
