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

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 incr...

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Autores principales: Staffler, Alex, Benz, Marcus R., Weber, Lutz T., Holzinger, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421357/
https://www.ncbi.nlm.nih.gov/pubmed/25949307
http://dx.doi.org/10.1093/ndtplus/sfn192
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author Staffler, Alex
Benz, Marcus R.
Weber, Lutz T.
Holzinger, Andreas
author_facet Staffler, Alex
Benz, Marcus R.
Weber, Lutz T.
Holzinger, Andreas
author_sort Staffler, Alex
collection PubMed
description 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.
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spelling pubmed-44213572015-05-06 A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone Staffler, Alex Benz, Marcus R. Weber, Lutz T. Holzinger, Andreas NDT Plus Case Report 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. Oxford University Press 2009-04 2008-12-09 /pmc/articles/PMC4421357/ /pubmed/25949307 http://dx.doi.org/10.1093/ndtplus/sfn192 Text en © 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 http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Staffler, Alex
Benz, Marcus R.
Weber, Lutz T.
Holzinger, Andreas
A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone
title A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone
title_full A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone
title_fullStr A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone
title_full_unstemmed A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone
title_short A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone
title_sort novel mutation in avpr2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421357/
https://www.ncbi.nlm.nih.gov/pubmed/25949307
http://dx.doi.org/10.1093/ndtplus/sfn192
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