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GI Week 4 > Lecture 34: Introduction to Pediatric Liver Disease > Flashcards

Lecture 34: Introduction to Pediatric Liver Disease Flashcards

1
Q

What is cholestasis?

A

Reduction of bile flow from the liver

Lack of bile acids, bilirubin, cholesterol and drugs and toxins in the bowel

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2
Q

What is conjugated hyperbilirubinemia?

A

Conjugated bilirubin that is >2 mg/dl

Or >15% of total bilirubin

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3
Q

What are the forms of bilirubin?

A
  1. conjugated bilirubin

2. Unconjugated bilirubin

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4
Q

What is conjugated bilirubin?

A

Diconjugated to glucuronic acid in the liver

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5
Q

What is unconjugated bilirubin?

A

Lipophilic and potentially toxic species

Carried by albumin in blood

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6
Q

What are the types of neonatal cholestasis?

A
  1. Extra hepatic
    • choledocchal cyst
    • biliary atresia
    • bile duct stenosis
    • neoplasia/stones
  2. Intrahepatic
    • neonatal hepatitis
    • alagille syndrome
    • CMV
    • Neonatal GIANT CELL hepatitis
    • Galactosemia
    • TPN cholestasis
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7
Q

What are the characteristics of biliary atresia?

A

Defined as complete obliteration of hepatic/common bile ducts

  1. most common identifiable cause of infantile cholestatic jaundice
  2. only occurs in infants
  3. leading indication for liver transplantation
  4. can be idiopathic or part of a malformation (polysplenia, congenital cardiac disease, etc.)
  5. Have DARK urine, mild icterus, hepatosplenomegaly, well appearing child
  6. Elevated GGT, mildly elevated ALT
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8
Q

What is heterotaxy?

A

Transposition

Any abnormal position of the organs of the body

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9
Q

Why do babies get PHYSIOLOGIC jaundice?

A

Enhanced bilirubin production due to
-large RBC mass
-shortened RBC life span
-inefficient EPO
Decreased albumin binding due to lower [albumin]
Decreased hepatic uptake nd binding due to decreased ligandin, decreased conjugation
Decreased secretion

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10
Q

What are signs of PATHOLOGIC jaundice in neonates?

A
  1. Neonatal CHOLESTASIS is always pathologic
    • is a relative emergency
  2. Any infant with jaundice after 2 weeks of age should have a fractionated bilirubin to asses for conjugated hyperbilirubinemia
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11
Q

What is the gold standard for diagnosing BA?

A

Operative cholangiogram

Infant stool color card developed in Taiwan

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12
Q

What is the surgical treatment for BA?

A

Kasai hepatoportoenterostomy

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13
Q

What are the candidate genes for biliary atresia?

A

GPC1 (glypican 1) seen in the zebra fish

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14
Q

What is the significance of kasai’s hepatoportoenterostomy?

A

Surgery used to treat biliary atresia for newborns

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15
Q

What is alagille syndrome?

A

Genetic disorder that affects liver, heart, kidney and other systems
Autosomal dominant
Deletion of 20p12, so embryonic development is messed up

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16
Q

What is GSD?

A

Glycogen stoarage disease

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17
Q

What are the characteristics of glycogen storage disease?

A

Metabolic liver disease
Causes HEPATOMEGALY (because too much glycogen is present)
Patients present with hypoglycemia
Glycogen accumulates in hepatocytes

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18
Q

What are the characteristics of Niemann Pick disease?

A

Metabolic liver disease
Causes HEPATOSPLENOmegaly
Abnormal LIPIDS accumulate in reticuloendothelial cells
Neurological involvement in some types

19
Q

What are the characteristics of tyrosinemia?

A

Metabolic liver disease
A type of toxic metabolite that cause liver damage
Patients have early liver failure and cirrhosis
High risk for hepatocellular carcinoma
TOO MUCH TYROSINE

20
Q

What are types of causes for inherited cirrhosis?

A

Alpha-1-anti trypsin deficiency in neonates
Hemochromatosis
Cystic Fibrosis
Phenlyketonuria

21
Q

What is the most common type of inherited cirrhosis?

A

Alpha 1 anti trypsin deficiency in neonates

22
Q

What are the characteristics of alpha1-antitrypsin deficiency?

A
  1. A1Antitrypsin is a serum protease inhibitor
    -synthesized in liver and secreted
  2. Primary function is to inhibit neutrophil elastase in the lung
  3. deficiency leads to emphysema and liver disease due to mutant protein in hepatocytes
    No A1AT = neutrophils go wild and you get CIRRHOSIS
23
Q

What are indications for A1AT deficiency testing?

A

Chronic active hepatits
Cryptogenic cirrhosis
Hepatocellular Carcinoma
Early emphysema

24
Q

Why do only a subset of patients with A1AT deficiency develop liver disease?

A

Because proteins do not get degraded in liver in this subset

25
Q

What is Carbamazepine?

A

Used to treat A1AT deficiency
Known to enhance autophagy
Decreased PAS-positive globules and fibrosis (in mouse model)

26
Q

What is Wilson Disease?

A

A disease in which COPPER accumulates in multiple organs, principally the liver and the brain
Inherited defect in hepatic biliary excretion of copper
Wilson disease gene ATP7B on chromosome 13

27
Q

What disease is result of accumulation

Of too much Copper?

A

Wilson Disease

28
Q

What maintains normal copper homeostasis?

A

Intake in GI tract and excreted in the liver

29
Q

How does copper get excreted in the liver?

A

Goes through the copper transporter 1 (ctr1) and gets taken up by Murr1?

30
Q

What are the hepatic presentations of Wilson disease?

A
  1. aminotransferase elevations
  2. hepatomegaly
  3. chronic active hepatitis
  4. Cirrhosis, hepatic insufficiency
  5. fulminant hepatitis
  6. autoimmune hepatitis-like
31
Q

What are the neurologic presentations of Wilson disease?

A
  1. Dystonia with rigidity
  2. Tremors
  3. dysarthria and dysphonia
  4. gait disturbance
  5. Choreiform movements
32
Q

What are K-F rings?

A

Kayser-Fleischer ring
Dark rings that encircle the iris due to copper deposition
Suggestive of Wilson Disease

33
Q

Is Wilson disease treatable?

A

Clinical manifestations may be severe but the disease is treatable if diagnosed early
Treated by Penicillamine, Trientene and Tetrathiomolybdate
Also can be treated with zinc and liver transplantation

34
Q

What is genetic hemochromatosis?

A

Pathologic deposition of EXCESSIVE IRON in the parenchymal cells of many organs
Leads to cell damage and functional abnormalities
Most common inherited disease in Caucasians

35
Q

What are the genetic etiologies of hemochromatosis?

A

Mutations to

i. HFE-related protein	
ii. TfR2 relaed protein
iii. hemojuvelin
iv. hepcidin
v. ferroportin
36
Q

What is the function of HFE?

A

Expressed on enterocyte surface

Affects iron absorption

37
Q

What is TfR2?

A

Protein that modify iron uptake by hepatocytes

38
Q

What is hemojuvelin?

A

Modulates hepcidin expression

39
Q

What is hepcidin?

A

Modulates release of iron from enterocytes and macrophages
Acute phase reactant
KEY TO IRON REGULATION

40
Q

What is ferroportin?

A

Controls iron export from enterocytes, macrophage, placenta and hepatocytes

41
Q

What is the classic triad of hemochromatosis?

A
  1. hepatomegaly
  2. diabetes mellitus
  3. skin pigmentation
42
Q

What predisposes you to hemochromatosis?

A

C282Y homozygotes

43
Q

What is the treatment of hereditary hemochromatosis?

A

Removal of Fe by phlebotomy at weekly/biweekly intervals

44
Q

What is the key for iron homeostasis?

A

Hepcidin (hypothetical)

Mutations in hepcidin = MOST SEVERE hemochromatosis

GI Week 4 (12 decks)

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