1.Rotor’s Syndrome: A family study
Pio F. Poblete ; Milagros Reyes ; Lourdes Manahan ; Adelaida Dalmacio-Cruz
Acta Medica Philippina 2022;56(2):66-71
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
2.A case of rotor syndrome.
Jin Hwi KIM ; Yang Suh KOO ; Jong Ik JEONG ; Sang Yong JEONG ; Duk Ho KWUN ; Dong Woo SHIN ; Byung Chul HAHN ; Dong Jin SUH
Korean Journal of Medicine 2000;59(1):109-113
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
3.Two Cases of Rotor Syndrome in Brothers.
Sonn Il KWON ; Kum Le KO ; Jong Hun PARK ; Young Soo LIM ; Dong Heuck KUM
Journal of the Korean Pediatric Society 1983;26(9):934-938
No abstract available.
Humans
;
Hyperbilirubinemia, Hereditary*
;
Siblings*
4.Three Cases of Rotor Syndrome in Monozygotic Twin Brothers and Their Sister.
Jin Hwa JUNG ; Jeong Ho LEE ; Yong Sub KIM ; Jon Dae JO
Journal of the Korean Pediatric Society 1995;38(9):1270-1275
No abstract available.
Humans
;
Hyperbilirubinemia, Hereditary*
;
Siblings*
;
Twins, Monozygotic*
5.A Case with Rotor Syndrome in Hyperbilirubinemic Family.
Min Kyu JUNG ; Myung Hwan BAE ; Dae Jin KIM ; Wan Suk LEE ; Chang Min CHO ; Won Young TAK ; Young Oh KWEON
The Korean Journal of Gastroenterology 2007;49(4):251-255
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
6.A Case of Hereditary Spherocytosis Coexisting with Gilbert's Syndrome.
Min Jae LEE ; Yoon Hwan CHANG ; Seung Hwa KANG ; Se Kwon MUN ; Heyjin KIM ; Chul Ju HAN ; Jin KIM ; Hye Jin KANG
The Korean Journal of Gastroenterology 2013;61(3):166-169
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
8.Two Cases of Rotor Syndrome in Siblings.
Hwa Jin PARK ; Eun Sung KIM ; Ji Young CHUNG ; Sung Ho CHA ; Deog Yoon KIM
Korean Journal of Pediatrics 2004;47(8):892-895
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
9.A Case of Rotor Syndrome.
Chan Kyu KANG ; Joung Sun KANG ; Hyoung Woo LEE ; Moon Kwan CHUNG ; Bong Sup SHIM ; Hyun Woo LEE
Yeungnam University Journal of Medicine 1989;6(2):257-263
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