Rotor syndrome is a rare familial conjugated hyperbilirubinaemia with notmal liver histology and unknown cause. The hypothesis was tested that it can be an allele variant of Dubin-Johnson syndrome, caused by mutation in ABCC2 gene. The ABCC2 gene and protein were investigated in two patients with this syndrome. No sequence variations were found in 32 exons, adjacent intronic regions and the promoter region of ABCC2. Accordingly, Rotor syndrome is not an allelic variant of ABCC2 deficiency.
(Comment by M.Mikulecký: A defect in liver storage seems to be one mechanism in Rotor syndrome.)
Liver International 2007, p.485-491.
|Attachment||Date||Size||Availability [?]||Clinically sensitive [?]||Licence|
|7_Rotorov typ hyperbilirubinémie||15.4.2011||1.36 MB||anyone||–||–|
citation: Mikulecký Miroslav, Martin Hřebíček, Tomáš, Jirásek, Hana Hartmannová, Lenka Nosková, Viktor Stránecký, Robert Ivánek, Stanislav Kmoch, Dita Cebecauerová, Libor Vítek, Iva Subhanová, Pavel Hozák, Milan Jirsa: Rotor–type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump. Multimedia support in the education of clinical and health care disciplines :: Portal of Faculty of Medicine, Comenius University [online] , [cit. 06. 07. 2020]. Available from WWW: https://portal.fmed.uniba.sk/articles.php?aid=185. ISSN 1337-9577.