Lecture 32 - Cholestatic Disease

Question 1

The most common etiology of neonatal cholestasis is _____ _____ atresia. Bile duct ______ is also possible, but this is actually normal for _____ neonates, so it shouldn’t be considered syndromic.

Answer 1

Extrahepatic biliary atresia

Paucity

Question 2

The first thing to do for neonates presenting with jaundice is Fractionate ______.

If it is mostly CONJUGATED –> look to 4 possibilities. What are they?

Answer 2

Bilirubin

Extrahepatic Biliary atresia

Galactosemia

Hypothyroidism

Tyrosinemia

Question 3

When should abdominal ultrasound be performed on a neonate when you want to view the gallbladder?

Answer 3

When they are Fasting –> the gallbladder is small, so if it’s contracted during digestion, it may not be visible.

Question 4

A ______ scan can show Extrahepatic biliary atresia bc there will not be any uptake of the dye into the intestine.

Answer 4

HIDA

Question 5

Management for Extrahepatic biliary atresia should involve _____ _______ –> connects the jejunum to the liver and the duodenum/stomach to a more distal part of the jejunum.

How soon after birth does this need to be diagnosed for decent success rate (about 75%)?

Answer 5

Kasai’s Portoenterostomy

Within 60 days

Question 6

Treatment for Galactosemia is ______-free formula.

Answer 6

Lactose-free

Question 7

Treatment for Tyrosinemia is diet low in ________ and Tyrosine. They can also be given NTBC, which drastically lowers the risk for _____ if given early in disease progression.

Answer 7

Phenylalanine

HCC

Question 8

Neonates with Choestasis will obviously have issues with fat malabsorption, so their diets should be supplemented with ______-_____ fatty acids. Why?

Answer 8

Medium-chain

They do not require micelle formation for absorption –> they can be directly absorbed.

Question 9

Assessing Neonates for malnutrition should focus on measurements of ___ skin folds and mid-upper arm ______ (areas of fat stores in neonates). Why are body weight and height not good metrics?

Answer 9

Tricep skin folds

Circumference

Body weight –> can be falsely normal/high from organomegaly/ascites.

Height –> usually changes with CHRONIC malabsorption.

Question 10

Caloric intake for malnurished neonates should be increased from 100cals/kg body weight/day to _____-_____cals/kg body weight/day.

Answer 10

120-150

Question 11

Edema and Fibrosis are characteristic of _____ (early or late?) changes in Extrahepatic biliary atresia.

Answer 11

Late

Question 12

The key diagnostic procedure for identifying Extrahepatic biliary atresia in neonates is ________ _______.

Answer 12

Intaroperative Cholangiogram (surgical administration of dye to confirm atresia).

Question 13

Neonates with recurrent cholangitis and ______ _______ should be considered for liver transplant.

Answer 13

Portal Hypertension

Question 14

Alagille syndrome can result in cholestasis and is associated with an autosomal dom mutation in _____ gene on Chromosome ____.

Answer 14

JAG1

20

Question 15

Byler’s syndrome results in progressive cholestasis, though _____ can be low or normal. They may show elevated sweat ______. The associated mutation is in the ATP8B1 gene on chromosome _____. This disease responds to partial biliary _____.

Answer 15

GGTP

Chloride

18

Diversion

Question 16

Progressive Familial Intrahepatic Cholestasis 2 (PIFC2) arises from a defect in the ______11 gene on chromosome ___. Like Byler’s syndrome, _____ is low/normal. These patients have increased risk of _____.

Answer 16

ABCB11

2

GGTP

HCC

Question 17

PIFC3 arises from a mutation in ABCB4 on chromosome ____. Unlike the others, this disease will show HIGH ______. These patients suffer from impaired biliary _______ secretion.

Answer 17

7

GGTP

Phospholipid secretion

Question 18

Benign Recurrent Intrahepatic Cholestasis (BRIC) –> _____ mutation causes hearing loss, pancreatitis, and diarrhea. _____ mutation causes cholelithiasis and increased risk of hepatobiliary maignancy.

Answer 18

BRIC1

BRIC2

Question 19

Dubin Johnson Syndrome –> look for what?

Answer 19

Brown Black discoloration of the liver.

Question 20

Rotor syndrome –> corpoporphyrins are ______ (decreased or elevated?) with Isomer I < 80%.

How does histology appear in these patients?

Answer 20

Elevated

Normal