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

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

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

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

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

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

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

OBJECTIVE: To explore the genetic basis for a patient featuring Rotor syndrome. METHODS: Clinical data of the patient was collected. Whole exome sequencing (WES) based on high-throughput sequencing technology was carried out. Long-interspersed element-1 (LINE-1) insertion in intron 5 of the SLCO1B3 gene was detected by using tri-primer single tube PCR. RESULTS: WES revealed that the patient has carried homozygous c.1738C>T nonsense variants of the SLCO1B1 gene. He was also found to harbor a homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene, which has caused skipping of exon 5 or exons 5 to 7 and introduced a stop codon in the SLCO1B3 transcript. CONCLUSION The homozygous c.1738C>T variant of the SLCO1B1 gene and homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene probably underlay the Rotor syndrome in this patient.
Exons/genetics* ; Homozygote ; Humans ; Hyperbilirubinemia, Hereditary ; Introns/genetics* ; Liver-Specific Organic Anion Transporter 1 ; Male ; Whole Exome Sequencing

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

We experienced a case of Rotor syndrome in an 8 year 6 month old boy who presented with icteric sclera and icteric skin on whole body. His clinical and laboratory characteristics were as follows; 1) Jaundice appeared from several months ago before admission without any clinical disturbance. 2) Direct bilirubin was more increased than indirect bilirubin. 3) Plasma indocyanine green (ICG) kinetics test revealed hepatic excretory in this patient that after intravenous injection of a standard dose of ICG (0.5mg/kg), its initial plasma disappearance is decreased, resultin in markedly increased retention of the dye 45 to 50 minutes after administration. 4) Oral cholangiography, ultrasonogram, and computed tomogram of abdomen were normal. 5) Liver biopsy specimen showed no dark brown pigmentations in the hepatic cells and any other pathologic abnormalities. 6) Nearly similar clinical and laboratory findings were observed 26 months later.
Abdomen ; Bilirubin ; Biopsy ; Cholangiography ; Hepatocytes ; Humans ; Hyperbilirubinemia, Hereditary* ; Indocyanine Green ; Infant ; Injections, Intravenous ; Jaundice ; Kinetics ; Liver ; Male ; Pigmentation ; Plasma ; Sclera ; Skin ; Ultrasonography