AI Article Synopsis
- Nephrogenic diabetes insipidus (NDI) is a rare genetic disorder that affects kidney function by impairing water reabsorption, often due to mutations in vasopressin receptors or aquaporin channels.
- A case study focuses on a 15-year-old girl diagnosed with NDI following severe gastroenteritis and fluid treatment, leading to persistent vomiting.
- Genetic testing identified unique mutations in the AQP2 gene, marking it as a novel discovery in a patient diagnosed at an unusual age for this condition.
Article Abstract
Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder most often caused by mutations in the arginine-vasopressin receptors or aquaporin channels, which subsequently impairs the water reabsorption in the kidney. This case report describes a 15-year-old female diagnosed with NDI after an acute gastroenteritis and multiple fluid boluses leading to intractable emesis. Gene testing reveals our patient is compound heterozygous for novel AQP2 gene mutations with a cytosine-to-thymine substitution at nucleotide position 277 and adenine-to-cytosine substitution at nucleotide position 659. Therefore, we report a novel AQP2 gene mutation in an adolescent patient which is outside the common age for diagnosis.
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| http://dx.doi.org/10.1515/jpem-2019-0099 | DOI Listing |
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