NDT Advance Access originally published online on January 19, 2006
Nephrology Dialysis Transplantation 2006 21(4):1082-1086; doi:10.1093/ndt/gfk024
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© The Author [2006]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Case Report
Nephrogenic diabetes insipidus, thiazide treatment and renal cell carcinoma
1 Pediatric Department, Farwania Hospital, Safat, Kuwait, 2 Institute of Biochemistry, Department of Molecular Biochemistry, Medical Faculty, University of Leipzig, Leipzig, Germany, 3 Pathology Unit, Laboratory Department, Farwania Hospital, Safat, Kuwait and 4 Surgical Department, Farwania Hospital, Safat, Kuwait
Correspondence and offprint requests to: Dr T. Schöneberg, Institute of Biochemistry, Molecular Biochemistry, Medical Faculty, University of Leipzig, Johannisallee 30, 04103 Leipzig, Germany. Email: schoberg@medizin.unileipzig.de
Keywords: aquaporin-2; mutation; nephrogenic diabetes insipidus; renal cell carcinoma; thiazide diuretics
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| Introduction |
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Congenital nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by the kidneys inability to respond to vasopressin (AVP). As a consequence, the kidney loses its concentrating ability and produces large volumes of hypotonic urine, which may lead to severe dehydration and electrolyte imbalance, mainly hypernatraemia and hyperchloraemia [1]. NDI can be accompanied by megacystis, pelvis dilatation, hydronephrosis, mental retardation and even, inner ear deafness [2,3].
Two candidate genes have been identified in humans as causes of three inherited NDI forms. The X chromosome-linked NDI is caused by inactivating mutations in the V2 vasopressin receptor (AVPR2) gene [4]. Males are seriously affected by X chromosome-linked NDI if they inherit the mutant gene, whereas females are usually not or only mildly (partial NDI) affected. The autosomal recessive and dominant NDI forms are extremely rare types of inherited NDI, affecting both genders, and are
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