A family was studied in which three members in the sibship belonging to the fourth generation were found to have Rotor’s syndrome. More detailed examinations including blood studies, liver profiles, oral cholecystograms, and liver biopsies where performed on the affected siblings. The results were related to what is at present known about the features and mechanisms of Rotor’s syndrome, pari passu the current concept of bilirubin metabolism. It is suggested that the constant finding, and possibly the only characteristic one in Rotor’s syndrome, is the absence of abnormal hepatic cell pigmentation. Pedigree analysis of the present family shows that the transmission of this disorder may be conditioned by an autosomal recessive gene.
Hyperbilirubinemia, Hereditary

Rotor syndrome is a rare benign familial disorder characterized by chronic, fluctuating, nonhemolytic and predominantly conjugated hyperbilirubinemia with normal liver tissue. In contrast to Dubin-Johnson syndrome, there is no liver hyperpigmentation in Rotor syndrome, and BSP clearance does not show a secondary retention peak. The serum bilirubin in patients with Gilbert's syndrome is almost all unconjugated in contrast to Rotor syndrome. A 29-year-old male was admitted due to persistent jaundice. Physical examination revealed icteric sclera without hepatosplenomegaly. Laboratory findings showed increased serum bilirubin with indirect bilirubin predominance. Urinary excretion of total coproporphyrin was markedly elevated, and coproporphyrin I was 66% of total urinary coproporphyrin. Oral cholecystography showed well visualized the gallbladder, but 99mTc-DISIDA scan showed markedly decreased hepatic uptake and poor visualization of the gallbladder and biliary tract. Histology of the liver showed no abnormal finding. We report the case with the review of literature.
Adult ; Biliary Tract ; Bilirubin ; Cholecystography ; Gallbladder ; Gilbert Disease ; Humans ; Hyperbilirubinemia ; Hyperbilirubinemia, Hereditary* ; Hyperpigmentation ; Jaundice ; Jaundice, Chronic Idiopathic ; Liver ; Lymphoma ; Male ; Physical Examination ; Sclera ; Skin Neoplasms ; Survival Rate ; Technetium Tc 99m Disofenin

No abstract available.
Humans ; Hyperbilirubinemia, Hereditary* ; Siblings*

No abstract available.
Humans ; Hyperbilirubinemia, Hereditary* ; Siblings* ; Twins, Monozygotic*

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 bilirubinmia. 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.
Adult ; Coloring Agents/*diagnostic use/pharmacokinetics ; Humans ; Hyperbilirubinemia, Hereditary/diagnosis/genetics/radionuclide imaging ; Indocyanine Green/*diagnostic use/pharmacokinetics ; Jaundice, Chronic Idiopathic/*diagnosis/radionuclide imaging ; Liver/radionuclide imaging ; Liver Function Tests ; Male ; Radiopharmaceuticals/*diagnostic use ; Technetium Tc 99m Disofenin/*diagnostic use

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.
Adult ; Erythrocytes/physiology ; Gallstones/etiology ; Genotype ; Gilbert Disease/complications/*diagnosis/genetics ; Glucuronosyltransferase/genetics ; Hemolysis ; Humans ; Hyperbilirubinemia/etiology ; Male ; Polymorphism, Single Nucleotide ; Spherocytosis, Hereditary/complications/*diagnosis/genetics ; Splenomegaly/etiology

Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Hyperbilirubinemia, Hereditary ; diagnosis

Rotor syndrome is a rare benign familial disorder characterized by chronic, fluctuating, nonhemolytic and predominantly direct bilirubinemia with normal liver tissue. We have recently experienced two cases of Rotor syndrome in a brother and sister. They revealed icteric sclerae with mild hepatomegaly in physical examination. Laboratory findings showed increased serum bilirubin with direct bilirubin predominance. The urinary excretion of total coproporphyrin was slightly elevated. The 99mTc-DISIDA scan showed a markedly decreased hepatic uptake and poor visualization of gallbladder and biliary tree which could be compatible to the Rotor syndrome. We report two cases with a review of the literature.
Biliary Tract ; Bilirubin ; Gallbladder ; Hepatomegaly ; Humans ; Hyperbilirubinemia ; Hyperbilirubinemia, Hereditary* ; Liver ; Physical Examination ; Sclera ; Siblings* ; Technetium Tc 99m Disofenin

Rotor syndrome is a rare disease of hereditary hyperbilirubinemia transmitted with autosomal recessive trait. In general, Rotor syndrome shows direct hyperbilirubinemia and there has been several reports since Sons's report in 1966, in Korea. A 34-year-old female was admitted with the chief complaint of intermittent icteric sclera for 24 years. There was no family history of jaundice. Rotor syndrome was diagnosed by oral cholecystogram, BSP retention test, 99mTc-DISIDA scan, liver biopsy and electron microscopy study of liver biopsy specimen. We report this case with brief review of the literature.
Adult ; Biopsy ; Female ; Humans ; Hyperbilirubinemia ; Hyperbilirubinemia, Hereditary* ; Jaundice ; Korea ; Liver ; Microscopy, Electron ; Rare Diseases ; Sclera ; Technetium Tc 99m Disofenin

Hemochromatosis ; etiology ; genetics ; Hepatolenticular Degeneration ; etiology ; genetics ; Humans ; Hyperbilirubinemia, Hereditary ; etiology