BACKGROUND: The cause of Rotor syndrome (RS), a rare-familial conjugated hyperbilirubinaemia with normal liver histology, is unclear. We hypothesized that RS can be an allelic variant of Dubin-Johnson syndrome, caused by mutation in ABCC2, and investigated ABCC2 (gene) and ABCC2 (protein) in two patients with RS. METHODS: A 57-year-old male presented with a 5-year history of predominantly conjugated hyperbilirubinaemia (170 micromol/l). Urinary porphyrin excretion was increased; cholescintigraphy revealed no chromoexcretion. A 68-year-old male presented with lifelong conjugated hyperbilirubinaemia (85 micromol/l). Bromosulfophthalein elimination was typical for RS. Both patients had histologically normal liver, without pigment. ABCC2 expression was investigated by confocal fluorescence microscopy. ABCC2 was sequenced from genomic DNA and cDNA, and exon deletions/duplications were sought by comparative genomic hybridization on a custom micro-array. RESULTS: In both patients, ABCC2 was expressed unremarkably at the apical membrane of hepatocytes and no sequence alterations were found in 32 exons, adjacent intronic regions and the promoter region of ABCC2. CONCLUSIONS: Rotor-type hyperbilirubinaemia is not an allelic variant of ABCC2 deficiency.
- MeSH
- Hyperbilirubinemia, Hereditary diagnosis etiology genetics MeSH
- Financing, Organized MeSH
- Liver pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Membrane Transport Proteins analysis genetics MeSH
- DNA Mutational Analysis MeSH
- Multidrug Resistance-Associated Proteins analysis genetics MeSH
- Aged MeSH
- Sulfobromophthalein analysis MeSH
- Family Health MeSH
- Jaundice, Chronic Idiopathic MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Liver metabolism MeSH
- Rats MeSH
- Perfusion MeSH
- Radioactive Tracers pharmacokinetics chemistry MeSH
- Technetium Compounds pharmacokinetics chemistry MeSH
- Sulfobromophthalein pharmacokinetics MeSH
- Bile chemistry secretion MeSH
- Animals MeSH
- Check Tag
- Rats MeSH
- Animals MeSH
- Publication type
- Comparative Study MeSH
- MeSH
- Chronic Disease MeSH
- Child MeSH
- Humans MeSH
- Liver Diseases diagnosis MeSH
- Sulfobromophthalein MeSH
- Check Tag
- Child MeSH
- Humans MeSH
