Skip Navigation



NDT Plus Advance Access published online on December 9, 2008
NDT Plus, doi:10.1093/ndtplus/sfn192
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
2/2/127    most recent
sfn192v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Staffler, A.
Right arrow Articles by Holzinger, A.
Right arrow Search for Related Content
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 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: 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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.