Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus

Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus

Early diagnosis and treatment of congenital nephrogenic diabetes insipidus (CNDI) are essential due to the risk of intellectual disability caused by repeated episodes of dehydration and rapid rehydration. Timely genetic testing for disease-causing variants in the arginine vasopressin receptor 2 (AVP...

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Bibliographic Details
Main Authors: Shivani Joshi, Per Brandstrom, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen
Format: Article
Language:English
Published: Karger Publishers 2017-09-01
Series:Case Reports in Nephrology and Dialysis
Subjects:
Vasopressin V2 receptor
Diagnostic testing
AVPR2
Congenital nephrogenic diabetes insipidus
De novo disease-causing variant
Online Access:http://www.karger.com/Article/FullText/480009

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http://www.karger.com/Article/FullText/480009

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