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Liver Diseases
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
In postmicrosomal hyperbilirubinemia bilirubin conjugation is normal, but the conjugated derivative is not transported to the large bile ducts. In the serum, elevated amounts of conjugated and unconjugated bilirubin appear, and this combination is known as Dubin-Johnson syndrome. The pigment is mainly accumulated in the centrilobular areas of the parenchymal cells and, to a lesser extent, in Kupffer cells. Bilirubin deposition within the hepatocyte is found in the lysosomes of the pericanalicular area. In biopsy specimens, the dark appearance of the liver is of useful diagnostic value.
The gastrointestinal tract
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The hyperbilirubinaemias are a heterogeneous group, including the following conditions: Dubin-Johnson syndrome: A variable autosomal dominant that rarely causes significant symptoms.
D
Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Dubin–Johnson Syndrome A form of chronic intermittent jaundice with pigmented liver. Described in a series of 12 patients by an American professor of pathology in Pennsylvania, I.N. Dubin and a Washington pathologist, S.B. Johnson, in 1954.
Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination
Published in Scandinavian Journal of Gastroenterology, 2018
Luise Aamann, Nikolaj Ørntoft, Ida Vogel, Henning Grønbaek, Naja Becher, Hendrik Vilstrup, Peter Ott, Dorte Launholt Lildballe
Mutations in ABCC2 cause the benign autosomal recessive disorder Dubin–Johnson syndrome, which is normally not associated with other signs of cholestasis. However, variants in ABCC2 seem to predispose for cholestatic reactions in some cases. Thus, although not uncontroversial [20,23] ABCC2 mutations have been associated with rare cases of ICP [24,25], neonatal cholestasis [26] and drug interaction involving NSAID and methotrexate [27]. P06 experienced ICP twice, cholestatic symptoms after use of NSAID, and revealed a family history of unexplained cholestatic liver diseases, but as the family was not genetically tested, she was classified as C, ‘Genetics may contribute’. The same was the case for P25 with severe and prolonged cholestatic symptoms after exposure to methotrexate transported by ABCC2 during elimination [28]. P22 presented with congenital hepatic fibrosis in a liver biopsy, this finding was inconsistent with only one missense variant in ABCC2 (c.1483A > G) and therefore classified as C. P22 was later diagnosed with TMEM67 mutations, which explained his phenotype better [29].
Diagnostic criteria and contributors to Gilbert’s syndrome
Published in Critical Reviews in Clinical Laboratory Sciences, 2018
Karl-Heinz Wagner, Ryan G. Shiels, Claudia Anna Lang, Nazlisadat Seyed Khoei, Andrew C. Bulmer
Dubin-Johnson syndrome is associated with multidrug resistance-associated protein 2 (MRP2) deficiency, which limits active transport of DBIL into the bile. DBIL therefore refluxes from the liver back into the circulation and causes increased TB and DBIL in the blood. In addition, the patients would likely demonstrate jaundice, produce dark urine, and demonstrate liver histology with course granulation within hepatocytes [68].