Dubin–Johnson syndrome

The Dubin -Johnson syndrome (also Dubin -Johnson - Sprinz syndrome) is a rare inherited disorder of the liver, in which the excretion of conjugated bilirubin into the bile is disturbed. Women are affected more often than men. The life expectancy is not limited to, one therapy is not necessary. The syndrome is named after the pathologist Isadore Nathan Dubin (1913-1980) and Frank B. Johnson ( b. 1919 ).

When Dubin -Johnson syndrome taking estrogens (eg as birth control pills) strictly contraindicated.

Etiology and pathogenesis

The disease is inherited as an autosomal recessive trait. As a result of a mutation is the so-called multidrug resistance related protein 2 ( MRP2 ) is not functional. It provides physiologically that glucuronidiertes (conjugated ) bilirubin is released into the bile canaliculi dependent on ATP ( canaliculi hepatici ). Thereby can not be transported from the liver into the bile capillary cell bilirubin, leading to an accumulation of bilirubin in the liver and in a build- conjugated bilirubin in the blood.

Symptoms

The Dubin -Johnson syndrome is manifested by jaundice with mild intermittent ( intermittently occurring ) hyperbilirubinemia (increased bilirubin in the blood, 60% of direct bilirubin ). In urine to coproporphyrin I can prove.

Diagnosis

In addition to the laboratory values ​​( bilirubin, coproporphyrin I) shows laparoscopically a brown - black discoloration of the liver. Histologically, a black pigment may be detected in the liver cells. In Cholezystogramm no biliary tract can be represented.

The ICD -10 code for the syndrome E80.6.