Mehl. GI. Hirshp., CF, biliary atr. 01-02 (1) Flashcards
Hirschsprung. Cause? mechanism
Failure of migration of neural crest cells distally within the colon.
Causes an aganglionic distal segment that results in anal sphincter tone.
Hirschsprung. assoc with what?
Down syndrome
Hirschsprung. CP?
Presents usually as failure to pass stool at birth, as chronic constipation in an infant, depending on the severity. But do not confuse with “meconium ileus,” which is a term
that refers to failure to pass stool at birth specifically due to cystic fibrosis.
Hirschsprung. Dx?
Diagnose with anal manometry showing anal sphincter tone, followed by biopsy.
CF. discussed in pulmo
.
CF. HY finding?
meconium ileus + exocrine pancreatic insufficiency are exceedingly HY.
CF. Secretions within the pancreatic ducts are inspissated (meaning desiccated / dried up within a lumen), making them sticky. This means the enzymes can’t make their way to the duodenum –> fat-soluble vitamin malabsorption –> NBME exams love vitamin E deficiency in CF in particular (presents as neuropathy).
.
CF. D xylose test?
D-xylose test is normal, since the intestinal lining/architecture is intact.
Biliary atresia. age?
prominent incr. direct bilirubin in a kid under the age of 6 weeks.
Biliary atresia. what is increased?
direct bilirubin
Biliary atresia. cause?
Caused by lack of development of the intrahepatic bile ductules and biliary tree.
Biliary atresia. what is done first for Dx?
Ultrasound will be done first
Biliary atresia. what to do to confirm Dx? usmle wants this?
liver biopsy to confirm the diagnosis.
Biliary atresia. what procedure is done to Tx/
Kasai procedure is done to treat
Biliary atresia. If Kasai procedure is not succesful, what to do for Tx?
liver transplant if unsuccessful.
