Paediatric - Liver

Question 1

What blood marker is elevated in biliary atresia?

Answer 1

Conjugated bilirubin

Question 2

How long might jaundice last in babies with biliary atresia?

Answer 2

persistent jaundice, lasting more than 14 days in term babies and 21 days in premature babies.

Question 3

Name a cause of obstructive jaundice

Answer 3

biliary atresia, choledochal cyst, cholelithiasis and spontaneous perforation of the bile duct can all occur in the neonatal period

Question 4

What medication used for biliary atresia can encourage bile flow

Answer 4

Ursodeoxycholic acid

Question 5

Name a hepatic feature of Wilson’s disease

Answer 5

• Acute liver failure.
• Chronic hepatitis and cirrhosis.
• Severe chronic liver disease with small, shrunken liver, splenomegaly and ascites.

Question 6

Wilson’s disease is caused by mutations in the gene which encodes the enzyme ATP-ase.

What is the function of ATP-ase and in what cell?

Answer 6

• ATP-ase functions within hepatocytes to move copper across intracellular membranes.
• ATP-ase directly supports production of the ferroxidase caeruloplasmin, in which copper is incorporated, as well as excretion of copper into bile.

Consequently, in Wilson’s disease, serum concentrations of copper are low and hepatic retention of copper develops, leading to liver injury.

Question 7

Patients with Wilson’s disease should avoid foods high in copper such as?

Answer 7

liver, chocolate, nuts, mushrooms, legumes and shellfish, especially lobster.

Question 8

What sign would be found in the eyes of a patient with Wilson’s disease?

Answer 8

Kayser-Fleischer rings

Question 9

Wilson’s disease is a disorder of hepatic copper disposition caused by mutations in the gene ATP7B, located on which chromosome?

Answer 9

13

Question 10

A choledochal cyst occurs where?

Answer 10

Bile duct

Question 11

What is the test of choice for Choledochal cyst?

Answer 11

Abdominal ultrasonography

Question 12

Name the 4 features of Liver Failure

Answer 12

• Hepatic encephalopathy
• Abnormal bleeding
• Ascites
• Jaundice

Question 13

Name a cause of Hepatic Failure under the headings:

Toxin-induced / Infection / Neoplastic / Metabolic / Pregnancy / Vascular

Answer 13

• Toxins:
  Chronic alcohol abuse.
  Paracetamol poisoning. .
  Drug toxicity associated with co-amoxiclav, ciprofloxacin, doxycycline, erythromycin, isoniazid, nitrofurantoin, statins, methotrexate propylthiouracil…
  Poisoning by various substances (including mushrooms)
  Illicit drugs, including ecstasy and cocaine.
  Reye’s syndrome.

 - Infections: 
Viral hepatitis
Adenovirus
Epstein-Barr virus
Cytomegalovirus

• Neoplastic:
  Hepatocellular carcinoma or metastatic carcinoma.
• Metabolic
  Wilson’s disease.
  Others - eg, alpha-1-antitrypsin deficiency, fructose intolerance, galactosaemia and tyrosinaemia.
• Pregnancy-related:
  Acute fatty liver of pregnancy
• Vascular:
  Budd-Chiari syndrome.

Question 14

What is the treatment of choice for biliary atresia?

Answer 14

• Surgical intervention is the only definitive treatment for biliary atresia: Intervention may include dissection of the abnormalities into distinct ducts and anastomosis creation
• Medical intervention includes antibiotic coverage and bile acid enhancers following surgery (Ursodeoxycholic acid)

Question 15

What deficiency may be a cause of neonatal cholestasis

Answer 15

Serum alpha 1-antitrypsin Deficiency