Long Benjamin C, Weber Zachary J, Oberlin John M, Sutter Deena E, Berg Janet M
San Antonio Uniform Services Health Education Consortium, Brooke Army Medical Center, Fort Sam Houston, TX, USA.
Pediatric Endocrinology, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.
J Pediatr Endocrinol Metab. 2019 Sep 25;32(9):1031-1034. doi: 10.1515/jpem-2019-0099.
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.
肾性尿崩症（NDI）是一种罕见的遗传性疾病，最常见的病因是精氨酸加压素受体或水通道蛋白通道发生突变，进而损害肾脏对水的重吸收。本病例报告描述了一名15岁女性，在急性肠胃炎和多次补液导致顽固性呕吐后被诊断为肾性尿崩症。基因检测显示，我们的患者是新型AQP2基因突变的复合杂合子，在核苷酸位置277处发生胞嘧啶到胸腺嘧啶的替换，在核苷酸位置659处发生腺嘌呤到胞嘧啶的替换。因此，我们报告了一名青少年患者中一种新型的AQP2基因突变，该突变发生在诊断的常见年龄范围之外。
