Other causes of liver disease

Question 1

What are the causes of fatty liver disease?

Answer 1

Primary: non-alcoholic fatty liver disease (NAFLD) related to the metabolic syndrome.
Secondary: metabolic (abetalipoproteinemia, glycogen storage), drugs, alcohol.

Question 2

Describe the process behind neonatal haemochromatosis?

Answer 2

Iron overload presenting as ALF usually in the first 2 weeks of life. Caused by maternal anti-Ro & La and associated with neonatal heart block (alloimmune process).
Ferritin is very high, with diagnosis confirmed on either liver or lip biopsy.
Treatment is with antioxidants, desferrioxamine +/- exchange transfusion

Question 3

What are the features of Progressive familial intrahepatic cholestasis (PFIC)?

Answer 3

Differential diagnosis of biliary atresia. AR inherited disorder of bile acid transport.
High circulating bile acids. Pruritis and gallstones common. Severe fat soluble vitamin deficiency. A low GGT is classifcal

Question 4

Failure to inhibit activation of which enzyme most commonly leads to familial pancreatitis?

Answer 4

75%‐ trypsinogen related
 SPINK1
Trypsinogen activation within the pancreas is inhibited by pancreatic secretory inhibitor (PSTI or SPINK1)
 PRSS1
Multiple isoforms of trypsinogen – missense mutation lead to premature activation within pancreas

Question 5

What are the causes of liver tumours in children?

Answer 5

Most common is benign haemangioendothelioma which are associated with hypothyroidism, followed by hepatoblastoma (usually in first 6 months of life and more common in preterm, IUGR, Beckwidth-Wiederman)

Question 6

Causes of acute liver failure in children

Answer 6

The most common cause of acute liver failure in children is seronegative infections. In the neonate, metabolic causes are more likely.
In acute liver failure, encephalopathy is not correlated with blood ammonia level, nor is the level of AST and ALT of prognosis. Main marker of severity is INR.