Ontology highlight
ABSTRACT:
SUBMITTER: Sollid JE
PROVIDER: S-EPMC7670377 | biostudies-literature | 2020 Sep-Dec
REPOSITORIES: biostudies-literature
Case reports in nephrology and dialysis 20200901 3
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 months. Gene sequencing of this proband and his mother revealed a novel variant in the gene encoding the antidiuretic hormone receptor (<i>AVPR2</i>). The variant is a deletion of nucleotide c.151 in ...[more]