Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy
Patients affected with congenital nephrogenic diabetes insipidus (CNDI) have reduced ability to concentrate urine. Early diagnosis of CNDI is important to avoid recurrent episodes of severe dehydration. We present a Danish male suffering from typical symptoms and diagnosed with CNDI at the age of 7...
Main Authors: | Johanne Emy Sollid, Shivani Joshi, Malgorzata Pulczynska Wason, Søren Rittig, Jane Hvarregaard Christensen, Konstantinos Kamperis |
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Format: | Article |
Language: | English |
Published: |
Karger Publishers
2020-10-01
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Series: | Case Reports in Nephrology and Dialysis |
Subjects: | |
Online Access: | https://www.karger.com/Article/FullText/508786 |
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