Clinical expression of co-inherited Dubin-Johnson and thalassaemic heterozygous states.
Dubin-Johnson syndrome is a worldwide prevalent familial conjugated hyperbilirubinaemia. The identification of multidrug resistance-associated protein 2 provided an understanding of the complex metabolic impairment involved in this syndrome. We report the first family with modified clinical expression of Dubin-Johnson heterozygous state due to genotypic interaction with co-inherited beta and deltabeta thalassaemia, an interaction that has never been described.
The 3rd Department of Pediatrics, Attikon University Hospital, University of Athens, School of Medicine, 1 Rimini Str., Haidari 124 62, Athens, Greece. afretz@med.uoa.gr
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Fretzayas
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S
Kitsiou
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Papadopoulou
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P
Nicolaidou
D000328:Adult; D001663:Bilirubin / Q000097:blood; D002675:Child, Preschool; D003306:Coproporphyrins / Q000652:urine; D005260:Female; D006115:Greece; D006579:Heterozygote; D006801:Humans; D007202:Indicators and Reagents / Q000493:pharmacokinetics; D007223:Infant; D007566:Jaundice, Chronic Idiopathic / Q000235:genetics*; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013448:Sulfobromophthalein / Q000493:pharmacokinetics; D013789:Thalassemia / Q000235:genetics*
D003306:Coproporphyrins; D007202:Indicators and Reagents; D013448:Sulfobromophthalein; D001663:Bilirubin