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NDT Plus Advance Access originally published online on December 9, 2008
NDT Plus 2009 2(2):127-129; doi:10.1093/ndtplus/sfn192
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© The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone

Alex Staffler1, Marcus R. Benz2, Lutz T. Weber2 and Andreas Holzinger1

1 Divisions of Neonatology
2 Pediatric Nephrology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany

Correspondence: Correspondence and offprint requests to: Andreas Holzinger, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, 80337 Munich, Germany. Tel: +49-89-5160-2811; Fax: +49-89-5160-7751; E-mail: andreas.holzinger{at}med.uni-muenchen.de


  Abstract

A 6-month-old male infant presented with failure to thrive. Hypernatraemia and elevated serum osmolality in the presence of low urine sodium and osmolality led to the diagnosis of diabetes insipidus. Administration of 1-deamino-8-D-arginine vasopressin (dDAVP) neither decreased urine volume nor increased urine osmolality indicating congenital nephrogenic diabetes insipidus. Molecular analysis in the arginine-vasopressin receptor-2 gene (AVPR2) located on chromosome Xq28 demonstrated a novel 5-base pair deletion (c.962–966delACCCC; g.1429–1433delACCCC) leading to a shift of the reading frame (p.Asn321fs) and a premature termination codon implying an absent or non-functional protein. Treatment with hydrochlorothiazide, amiloride and indomethacin led to a favourable clinical course.

Key Words: AVPR2 • congenital nephrogenic diabetes insipidus • frameshift mutation • molecular analysis

Received for publication June 6, 2008. Accepted for publication November 13, 2008.


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