Inherited Disorder
Inherited liver disorders: Dubin-Johnson syndrome is a rare condition where there is failure to excrete bilirubin once it has been conjugated with glucuronic acid by the liver cells, probably due to a defect in the transport system in the liver cells. While it causes intermittent jaundice it has no long-term deleterious effects. There is a similar syndrome - the Rotor - syndrome - which is inherited as an autosomal dominant condition (with an autosomal dominant disorder a single defective gene will cause the disease, while with an autosomal recessive condition both genes need to be affected). Again there are no implications for long-term good health. Unlike Dubin-Johnson and Rotor’s syndrome, Crigler-Najar’s syndrome (which is exceedingly rare) concerns the ability to conjugate the bilirubin with glucuronic acid. There are two types - type one produces a situation where there is a complete inability to conjugate the bilirubin and the acid, and is fatal in the first year of life, and type two where there is merely a relative inability. Survival with type two is possible, particularly if the level of enzyme is increased by using drugs which increase liver enzyme levels such as phenobarbitone, but jaundice may be marked. Transplantation is the only treatment.
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