Dubin-Johnson Syndrome
| Classification according to ICD-10 | |
|---|---|
| E80 | Disorders of the porphyrin and bilirubin metabolism |
| E80.6 | Other disorders of bilirubin metabolism |
| ICD-10 online (WHO version 2019) | |
The Dubin-Johnson syndrome (also Dubin-Johnson-Sprinz syndrome ) is a rare inherited disorder of the liver , in which the excretion conjugated bilirubin in the bile is disturbed. Women are more often affected than men. The life expectancy is not limited as a therapy is not necessary. The syndrome is named after the pathologists Isadore Nathan Dubin (1913–1980) and Frank B. Johnson (* 1919).
In Dubin-Johnson syndrome, the use of estrogens (e.g. as a birth control pill ) is strictly contraindicated .
Etiology and pathogenesis
The disease is autosomal - recessive inherited. As a result of a mutation , the so-called multidrug resistance-related protein 2 ( MRP2 ) is not functional. Physiologically, it ensures that glucuronidated ( conjugated ) bilirubin is released into the bile tubules (canaliculi hepatici) depending on the ATP. As a result, bilirubin cannot be transported from the liver cell into the biliary capillary, which leads to an accumulation of bilirubin in the liver and a backlog of conjugated bilirubin into the blood.
Symptoms
Dubin-Johnson syndrome manifests as jaundice (jaundice) with mild intermittent (temporary) hyperbilirubinemia (increase in bilirubin in the blood, 60% of which is direct bilirubin). In urine can be coproporphyrin I demonstrate.
diagnosis
In addition to the laboratory values (bilirubin, coproporphyrin I), a laparoscopic brown-black discoloration of the liver is evident . A black pigment can be detected histologically in the liver cells. In cholecystogram not have biliary tract represented.
The ICD-10 code for the syndrome is E80.6.
See also
Rotor Syndrome - List of Syndromes
Individual evidence
- ↑ Gerd Herold : Internal Medicine - A lecture-oriented presentation. Herold Verlag, Cologne 2013. p. 518.
