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  • Title: Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.
    Author: Long BC, Weber ZJ, Oberlin JM, Sutter DE, Berg JM.
    Journal: J Pediatr Endocrinol Metab; 2019 Sep 25; 32(9):1031-1034. PubMed ID: 31348762.
    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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