Progress in medical genetics. Volume 5 / edited by Arthur G. Steinberg and Alexander G. Bearn.

Date:
1967
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Progress in medical genetics. Volume 5 / edited by Arthur G. Steinberg and Alexander G. Bearn. Source: Wellcome Collection.

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    liver disease 107 (1966) the pro]DOsiti had the classic Dubin-Johnson picture but the commonest abnormality in the family was unconjugated hyperbilirubine¬ mia. Moreover, patients with Dubin-Johnson syndrome were found to have abnormal handling of unconjugated pigment which would not be expected when the defect is solely in the excretion of bilirubin into the bile channels (Billing et al., 1964). Similar changes were found in 3 of 5 asymptomatic relatives, one of whom had a slightly raised basal serum unconjugated bilirubin level. None of the relatives showed the typical secondary rise in conjugated bilirubin level seen in the propositi. Such observations add to the confusion in attempting to make a genetic explanation of the families involved or in deciding the mode of inheritance. Idiopathic Recurrent Cholestasis The patients suffer from multiple episodes of cholestatic jaundice of unknown etiology. Extrahepatic biliary obstruction is excluded by lapa¬ rotomy or cholangiography. Permanent liver damage does not develop and recovery between attacks seems to be complete. One patient has had 22 attacks and 3 laparotomies to exclude a possible obstruction ( Williams et al., 1964). This condition might be of genetic or environmental origin or indeed both. In favor of the genetic possibility is the early age of onset, 50 per cent of reported cases starting before the age of 10 years. Kuhn (1963) has observed the condition in 2 brothers. Tygstrup (1960) described 2 unrelated cases from an isolated island in the Faroes. Since then he has observed 7 other cases, one of whom has a sister with long periods of pruritus and who has been jaundiced twice (Tygstup, 1966). She has never been examined while suffering an attack and it is uncertain whether the condition is really benign recurrent cholestasis. The condi¬ tion appears to be inherited in an autosomal recessive fashion. Some of the patients have an allergic diathesis, rashes may be associated and the condition may recur at the same time of the year. The Biliary Atresias These defects may affect any level in the biliary tract even to the smallest interlobular bile duct. In 1932 Sweet reported 3 siblings with this condition but the evidence he gave was not suiBcient to enable the accuracy of the diagnosis to be ascertained. Krauss ( 1964 ) described 2 male siblings with congenital extrahepatic biliary atresia. Hopkins ( 1941 ) described one patient of whom an aunt on the mother's side of the family had been icteric throughout her life. Of her 6 pregnancies, the 5 delivered
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