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GI > Pediatric Liver Disease > Flashcards

Pediatric Liver Disease Flashcards

1
Q

What kind of bilirubin is mainly found in the bile ducts draining the liver?

A

Conjugated bilirubin.

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2
Q

What does unconjugated bilirubin bind in the blood?

A

Albumin

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3
Q

What is physiologic jaundice?

A

Infants tend to have a little jaundice for a variety of reasons:
More RBCs, shorter RBC lifespan, lower albumin (binds unconj. bili in the blood), decreased hepatic uptake etc.

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4
Q

What kind of bilirubin is found in physiologic jaundice?

A

Unconjugated bilirubin

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5
Q

Is conjugated hyperbilirubinemia normal in an infant?

A

No! This is indicative of cholestasis, which is a “relative emergency.”

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6
Q

2 extrahepatic causes of neonatal cholestasis?

A 
Choledochal cyst (found in common bile duct).
Biliary atresia.
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7
Q

2 intrahepatic causes of neonatal cholestasis?

A 
Neonatal hepatitis
Alagille syndrome (decreased hepatic bile ducts)
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8
Q

What is the most common extrahepatic cause of conjugated hyperbilirubinemia (in neonates)?

A

Biliary atresia.

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9
Q

What is biliary atresia?

A

Fibrous obliteration of hepatic or common bile ducts.

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10
Q

What are 2 clinical scenarios in which biliary atresias occur?

A

Idiopathic, isolated biliary atresia. 80%. May be due to viral or immune destruction.
Related to other malformations, such as polysplenia, malrotations, etc.

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11
Q

How does biliary atresia typically present?

A

Well appearing child with acholic (white) stools and dark urine, mild icterus, and hepatosplenomegaly.

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12
Q

What biochemistries are altered in biliary atresia? (3 things)

A

Conjugated bilirubinemia (= obstruction).
Mildly elevated ALT.
Elevated GGT.

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13
Q

What can ultrasound help you see when you’re working up conjugated hyperbilirubinemia?

A

Choledochal cyst.
Bile duct stones.
Spontaneous perforation of the CBD.
Congenital malformations (e.g. polysplenia).

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14
Q

With what test can you rule out biliary atresia?

A

Disida scintiscan.

Normal will show uptake into liver, then drainage into duodenum.

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15
Q

What do bile ducts look like in liver biopsy of a patient with biliary atresia? (3 things)

A

Bile duct proliferation.
Ductal bile plugs.
Portal fibrosis.

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16
Q

What’s the gold standard for diagnosis of biliary atresia?

A

Operative cholangiogram - intraoperative injection of contrast into the gallbladder.

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17
Q

What are the 2 surgical treatments for biliary atresia?

A

Kasai hepatoportoenterostomy.

Liver transplant.

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18
Q

What is a Kasai hepatoportoenterostomy? What’s a very important variable affecting outcomes of this surgery?

A

Takes loop of jejunum and sews it to some proximal bile duct openings in the liver… so that some bile can drain.
The younger, in days, that infants get the surgery, the better the survival.

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19
Q

What’s the easiest way to catch biliary atresia early?

A

Look at stool color - work it up if it’s white.

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20
Q

Complications of biliary atresia?

A

Jaundice, intractable pruritus, ascending cholangitis, Vit ADEK def, failure to grow, etc. etc.

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21
Q

What animal model is used for biliary atresia?

A

Zebrafish (and… also sheep that eat Dysphania)

22
Q

What’s one candidate gene that may be involved in biliary atresia?

A

GPC1

23
Q

How do glycogen storage diseases often present?

A

With hypoglycemia, often hepatomegaly…

24
Q

How do glycogen storage diseases look in histology of liver biopsy?

A

Pale hepatocytes with glycogen accumulation.

25
Q

What’s Niemann-Pick disease?

A

Lipids accumulate in reticulo-endothelial cells.

Causes hepatosplenomegaly, and sometimes neuro problems.

26
Q

What are bad sequelae of tyrosinemia?

A

Liver failure or cirrhosis.

High risk for hepatocellular carcinoma.

27
Q

Treatment of tyrosinemia?

A

Drug that blocks metabolic pathway.

28
Q

Most common causes of congenital cirrhosis in kids?

A

Alpha-1 anti-trypsin deficiency.

PFIC.

29
Q

Most common cause of inherited cirrhosis in adults?

A

Hemochromatosis.

30
Q

What organs does alpha-1 anti-trypsin (A1AT) deficiency affect?

A

Lungs - A1AT normally inhibits neutrophil elastase. Without A1AT, early emphysema.
Liver - damage to hepatocytes due to accumulation of mutant protein.

31
Q

How is A1AT mutation diagnosed?

A

Protein gel electrophoresis for the shorter, “Z” allele.

32
Q

What additional genetic differences might predispose people with A1AT mutation to liver disease?
What’s a related potential therapy for A1AT-associated liver disease?

A

Problems with eliminating misfolded proteins.

New therapy: Enhance autophagy with drugs such as Carbamazepine.

33
Q

What congenital liver disease can present with a deterioration in motor skills in a child, eg. around 6th grade?

A

Wilson’s disease - due to a buildup of copper in the basal ganglia.

34
Q

What’s the gene affected in Wilson’s disease? What does it normally do?

A

Gene = ATP7B

Encodes a transporter that moves copper out of the hepatocyte and into the bile duct.

35
Q

Clinical signs of Wilson’s Disease you could see on physical exam?

A

Neuro motor problems (dystonia, choreiform movements, tremors, gait disturbance, etc. - basal ganglia stuff), often with psych changes such as depression.
Kayser-Fleischer ring - brown ring around outside of iris.

36
Q

What kind of damage does Wilson’s disease due to the liver?

A

Hepatitic.

Can cause hepatitis and lead to cirrhosis.

37
Q

How do younger vs. older people tend to present with Wilson’s?

A

Younger - present more with liver problems.

Older - present more with neuro problems.

38
Q

What is copper bound to when secreted into the bile duct? What is this molecule called when there’s no copper?

A

With copper: Ceruloplasmin

Withou copper: Apoceruloplasmin

39
Q

How is diagnosis of Wilson’s Disease made? (Initial and Follow-up)

A

Initial: Measure ceruloplasmin, slit lamp exam (looking for brown ring on iris), 24 hr urine copper.
Follow-up: If results suggest Wilson’s, do liver biopsy with quantitative copper measurement.

40
Q

Treatment for Wilson’s? (4 things)

A

Oral chelating agent (Trientene is preferred over penicillamine).
Zinc - blocks Cu absorption.
Liver transplant.
Low Cu diet.

41
Q

Most common disease gene in hereditary hemochromatosis?

A

HFE.

42
Q

What genes cause juvenile hereditary hemochromatosis?

A

HJV - hemojuvelin

HAMP - hepcidin

43
Q

What’s the function of HFE?

A

Involved in Fe transport into enterocytes from gut lumen.

44
Q

What’s the function of hepcidin?

A

Inhibits release of iron from storage in enterocytes and macrophages.

45
Q

What’s the function of hemojuvelin?

A

Hemojuvelin may modulate hepcidin expression.

Decreasing hepicidin will increase Fe release into serum / tissues.

46
Q

What does ferroportin do?

A

Ferroportin allows Fe release from enterocytes and macrophages.

47
Q

Does iron overload take a long time to cause damage?

A

Yeah. 20-30ish years.

48
Q

What’s the classic triad of signs for hemochromatosis?

A

Hepatomegaly, diabetes mellitus, and skin pigmentation.

49
Q

Treatment for hereditary hemochromatosis?

A

Phlebotomy

50
Q

Do HFE mutations always cause iron overload?

A

Nope. These mutations are common in the population, and usually don’t cause disease.

GI (45 decks)

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