[A case with Rotor syndrome in hyperbilirubinemic family].
Rotor syndrome is a rare, benign familial disorder characterized by chronic fluctuating, nonhemolytic and predominantly conjugated hyperbilirubinemia with normal hepatic histology. In contrast to Dubin-Johnson syndrome, there is no liver pigmentation in Rotor syndrome. A 36-year-old man was admitted due to asymptomatic persistent jaundice. His siblings had jaundice with direct hyperbilirubinemia. Physical examination revealed icteric sclerae without hepatosplenomegaly. Laboratory findings showed increased serum bilirubin with direct bilirubinemia. Hepatic uptake and storage capacity of indocyanine green was markedly reduced, while excretion into bile was slightly suppressed. Markedly decreased hepatic uptake and poor visualization of the gallbladder and biliary tract were shown in 99mTc-DISIDA scan. Histology of the liver showed mild steatosis without pigmentation. We report a case with the review of literature.
Jung
Min Kyu
MK
Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
Bae
Myung Hwan
MH
Kim
Dae Jin
DJ
Lee
Wan Suk
WS
Cho
Chang Min
CM
Tak
Won Young
WY
Kweon
Young Oh
YO
D000328:Adult; D004396:Coloring Agents / Q000493:pharmacokinetics; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D007208:Indocyanine Green / Q000493:pharmacokinetics; D007566:Jaundice, Chronic Idiopathic / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008099:Liver / Q000000981:diagnostic imaging; D008111:Liver Function Tests; D008297:Male; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D019785:Technetium Tc 99m Disofenin
D004396:Coloring Agents; D019275:Radiopharmaceuticals; D007208:Indocyanine Green; D019785:Technetium Tc 99m Disofenin