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Flashcards in Pediatric Liver Disease Deck (48):
0

Which form of bilirubin is potentially toxic?

Unconjugated.

1

Where are the best places to look for jaundice on physical exam?

(1) conjunctiva
(2) mucous membranes of hard palate or under the tongue

2

What are causes of physiologic jaundice in newborns?

(1) Enhanced bilirubin production due to large RBC mass, decreased RBC life span, inefficient erythropoiesis.
(2) Decreased albumin.
(3) Decreased hepatic uptake and binding due to decreased ligandin.
(4) Decreased conjugation.
(5) Decreased secretion.

3

What is suspected if there is conjugated hyperbilirubinemia in a newborn?

Neonatal cholestasis.

4

How is neonatal cholestasis categorized?

(1) extrahepatic
(2) intrahepatic

5

What are 2 extrahepatic causes of neonatal cholestasis?

(1) choledochal cyst
(2) biliary atresia

6

What are 2 intrahepatic causes of neonatal cholestasis?

(1) neonatal hepatitis
(2) Alagille syndrome

7

What is the most common cause of neonatal cholestatic jaundice?

Biliary atresia.

8

What other anomalies may be seen in a newborn with biliary atresia?

(1) polysplenia
(2) situs ambiguus (bilateral left-sidedness)
(3) congenital cardiac disease
(4) malrotation of the small intestine
(5) vascular abnormalities

9

What is the clinical presentation of biliary atresia?

(1) well-appearing child
(2) acholic stools and dark urine
(3) mild icterus
(4) hepatosplenomegaly

10

What tests are performed in the diagnosis of biliary atresia?

(1) ultrasound (elimination of other causes)
(2) disida scintiscan (ditto)
(3) percutaneous liver biopsy (ditto)
(4) operative cholangiogram

11

What are the histological features of biliary atresia?

(1) bile duct proliferation
(2) ductal bile plugs
(3) portal fibrosis

12

How is biliary atresia treated?

(1) Kasai hepatoportoenterostomy (Roux-en-Y like surgery in which the hepatic duct has direct connection to the bowel)
(2) liver transplant

13

In order to predict the success of a Kasai procedure, what test could be performed?

Total bilirubin. Survival is significantly greater if the level is below 2 mg/dL.

14

What are complications of biliary atresia post-treatment?

(1) persistent jaundice
(2) intractable pruritus
(3) ascending cholangitis
(4) portal hypertension and splenomegaly
(5) variceal hemorrhage
(6) fat-soluble vitamin deficiency
(7) failure to thrive
(8) chronic liver failure

15

What gene seems to contribute to some cases of biliary atresia?

Gpc1 (for the glypican 1 protein).

16

What are the possible presentations of metabolic liver disease?

(1) hepatomegaly
(2) cholestasis
(3) chronic hepatitis
(4) liver failure
(5) cirrhosis

17

When might you suspect metabolic liver disease?

(1) severe hypoglycemia
(2) acidosis
(3) renal Fanconi's
(4) neurological involvement
(5) weakness

18

What is the clinical presentation of glycogen storage disease?

(1) hepatomegaly (due to accumulation of glycogen)
(2) hypoglycemia

19

What is the clinical presentation of Niemann-Pick disease?

(1) hepatosplenomegaly
(2) neurological involvement

20

What is Niemann-Pick disease?

A disorder in which abnormal lipids accumulate in reticuloendothelial cells in the liver and spleen.

21

What is the clinical presentation of tyrosinemia?

Early liver failure in neonatal period or later cirrhosis. High risk of hepatocellular carcinoma.

22

What is the most common cause of inherited cirrhosis in infants and children?

A1AT deficiency.

23

What is the most common cause of inherited cirrhosis in adults?

Hemochromatosis.

24

What is A1AT?

Alpha1-antitrypsin. It is a serum protease inhibitor synthesized in the liver whose primary function is to inhibit elastase in the lung.

25

What is the cause of liver disease in A1AT deficiency?

An accumulation of mutant protein in hepatocytes.

26

When might you suspect A1AT deficiency?

(1) neonatal hepatitis
(2) chronic active hepatitis
(3) cryptogenic cirrhosis
(4) hepatocellular carcinoma
(5) early emphysema

27

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

Patients with efficient degradation pathways are able to digest the mutated proteins within their hepatocytes.

28

How are individuals with A1AT deficiency managed?

(1) no smoking
(2) surveillance of hepatocellular carcinoma
(3) augmentation therapy for lung disease
(4) liver or lung transplant
(5) autophagy-enhancing drugs? (carbamazepine, valproic acid, lithium)

29

What is Wilson disease?

An autosomal recessive genetic disorder in which copper accumulates in multiple organs, principally the liver and brain, due to a defect in hepatic biliary excretion of copper.

30

What are dietary sources of copper?

Liver, nuts, chocolate, mushrooms, legumes, cereal.

31

What are the steps in copper excretion?

(1) Copper is taken into hepatocytes by Ctr1.
(2) It is transported into the Golgi apparatus by ATP7b (which is defective in Wilson disease).
(3) It is complexed to ceruloplasmin within the Golgi and ultimately released to the bile canaliculus.

32

What are possible hepatic presentations of Wilson disease?

(1) ALT/AST elevation
(2) hepatomegaly
(3) chronic active hepatitis
(4) cirrhosis, hepatic insufficiency
(5) fulminant hepatitis
(6) autoimmune-like hepatitis

33

What are possible neurological presentations of Wilson disease?

(1) dystonia with rigidity
(2) tremors
(3) dysarthria and dysphonia
(4) gait disturbances
(5) choreiform movements

34

Are younger patients with Wilson disease more likely to present with neurological or hepatic symptoms?

Hepatic.

35

What diagnostic tests are performed for Wilson disease?

(1) serum ceruloplasmin
(2) 24 hr urine copper
(3) liver biopsy with quantitative copper analysis

36

How is Wilson disease treated?

(1) oral chelating agents
(2) zinc (induces metallothionein and blocks copper absorption)
(3) liver transplant

37

What is hemochromatosis?

The pathologic deposition of excessive iron n the parenchymal cells of many organs, which leads to cell damage and functional abnormalities.

38

What are secondary causes of iron overload?

(1) transfusions
(2) anemias (beta-thalassemia, hereditary spherocytosis)
(3) dietary
(4) chronic liver disease

39

What genes are implicated in hemochromatosis?

(1) HFE
(2) TfR2
(3) HJV (hemojuvelin)
(4) HAMP (hepcidin)
(5) SLC40A1 (ferroportin)

40

What is the function of HFE?

Expressed on enterocyte surface, affects iron absorption.

41

What is the function of TfR2?

May modify iron uptake by hepatocytes.

42

What is the function of hemojuvelin?

May modulate hepcidin expression.

43

What is the function of hepcidin?

Modulates release of iron from enterocytes and macrophages.

44

What is the function of ferroportin?

Controls iron export from enterocytes, macrophages, placenta and hepatocytes.

45

What is the clinical presentation of hemochromatosis?

(1) hepatomegaly
(2) diabetes mellitus
(3) skin pigmentation
(4) chronic liver disease

46

What are indications for testing for hemochromatosis?

(1) liver disease
(2) abnormal liver enzymes
(3) diabetes mellitus
(4) arthropathy
(5) heart disease
(6) bronzed skin
(7) impotence

47

How is hemochromatosis treated?

Phlebotomy.