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New insights into the classification and mechanisms of hereditary, chronic, non-haemolytic hyperbilirubinaemias
  1. P. Berthelot,
  2. D. Dhumeaux


    Gilbert's syndrome is typically associated with a deficiency in hepatic bilirubin UDP-glucuronosyltransferase activity (B-GTA). The overproduction of bilirubin that is often found in this condition could be a fortuitous coincidence that leads to the unmasking of the disease, which otherwise often remains latent. Some cases of chronic unconjugated hyperbilirubinaemia could, however, be related to a defect in hepatic uptake, as reflected by alterations in BSP kinetics. Severe deficiencies of hepatic B-GTA exist in all types of Crigler-Najjar disease. An increased proportion of bilirubin monoglucuronide is always found in bile when a B-GTA deficiency is present. This observation strongly suggests a common biochemical defect in Gilbert's syndrome and in Crigler-Najjar disease, and thus renders the suggestion that the latter condition may be separated into two groups somewhat inappropriate. There is, however, no doubt that further knowledge of the conjugating enzyme, or enzymes, is required: such information may lead to the characterisation of several types of enzymic defects. Whereas little is new as far as the Dubin-Johnson syndrome is concerned, Rotor's syndrome can no longer be considered to be a variant of the former. The transport defect which is involved in most cases of Rotor's syndrome, if not in all, is an impairment of hepatic storage, thus distinguishing it from the impairment of excretion which is involved in the Dubin-Johnson syndrome. The distinct patterns of urinary coproporphyrin excretion, which were recently reported in Dubin-Johnson and Rotor's syndromes, offer additional evidence for a clear differentiation between these two entities.

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