The inheritance of Dubin Johnson syndrome

M. Shani, U. Seligsohn, A. Adam

פרסום מחקרי: פרסום בכתב עתמאמרביקורת עמיתים


The genetic syndrome of chronic idiopathic jaundice was first described by Dubin and Johnson in 1954. This disorder, referred to as the Dubin Johnson syndrome (DJS), consists of chronic or intermittent idiopathic hyperbilirubinemia with a deposit of a dark pigment, thought to be melanin, within apparently normal liver cells. Since 1955, 114 patients with DJS have been diagnosed in Israel; 69 were males and 45 females. The rate of consanguinity among parents of patients with DJS is very high. The findings strongly suggest an autosomal recessive mode of inheritance. Further support for a recessive mode of inheritance comes from data on the offspring of patients with DJS. Of the 102 patients examined, 60 were parents of 229 children, only five of whom were found to have DJS. These five belong to two Iranian sibships in which the parents are related.

שפה מקוריתאנגלית
עמודים (מ-עד)1427-1430
מספר עמודים4
כתב עתIsrael Journal of Medical Sciences
מספר גיליון9-10
סטטוס פרסוםפורסם - 1973
פורסם באופן חיצוניכן

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