Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump
Language English Country United States Media print
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
17403188
DOI
10.1111/j.1478-3231.2007.01446.x
PII: LIV1446
Knihovny.cz E-resources
- MeSH
- Hyperbilirubinemia, Hereditary diagnosis etiology genetics MeSH
- Liver pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Membrane Transport Proteins analysis genetics MeSH
- DNA Mutational Analysis MeSH
- Multidrug Resistance-Associated Protein 2 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
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- ABCC2 protein, human MeSH Browser
- Membrane Transport Proteins MeSH
- Multidrug Resistance-Associated Protein 2 MeSH
- Multidrug Resistance-Associated Proteins MeSH
- Sulfobromophthalein MeSH
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.
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OMIM
237450, 237500