avpr2基因突变所致先天性肾型尿崩伴生长激素缺乏症的临床特征.pdfVIP

中华临床医师杂志( 电子版)2013 年12 月第7 卷第23 期 Chin J Clinicians(Electronic Edition),December 1,2013,Vol.7,No.23 ·10559 · ·临床论著· AVPR2 基因突变所致先天性肾型尿崩 伴生长激素缺乏症的临床特征 赵丹青 平凡 朱慧娟 【摘要】 目的 探讨 1 例X 连锁隐性遗传的先天性尿崩伴生长激素缺乏患者的临床特征。方法 收集 患者的临床资料，抽取外周静脉血，提取基因组DNA，聚合酶链反应（PCR ）扩增AVPR2 基因的全部外 显子区，产物经纯化后测序明确突变情况，并结合文献进行分析。结果 该患者以多尿、多饮、身材矮小 为主要临床表现，禁水加压试验诊断肾型尿崩症，IGF-1 低，骨龄落后，低血糖生长激素兴奋试验确诊完全 性生长激素缺乏症，基因检测提示AVPR2 第二外显子g.636 C ＞T 突变。结论 先天性肾型尿崩症患者常 合并身材矮小，生长激素缺乏是其原因之一。结合文献随诊研究表明，在控制尿崩症后大部分患者终身高 仍小于平均水平。 【关键词】 尿崩症，肾性； 侏儒症，垂体性； 矮小； AVPR2 基因 Clinical manifestation of a AVPR2 gene mutation in congenial nephrogenic diabetes insipidus with growth * * hormone deficiency ZHAO Dan-qing , PING Fan, ZHU Hui-juan. Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China Corresponding author: PING Fan, Email: Pingfan6779@163.com 【Abstract 】 Objective To analysis the clinical manifestation of X-linked recessive congenial nephrogenic diabetes insipidus accompanied by growth hormone deficiency (GHD). Methods The clinical data was collected from the patient with nephrogenic diabetes insipidus and GHD. Genomic DNA was extracted from peripheral blood of the patient. The entire coding region of AVPR2 gene was amplified by polymerase chain reaction (PCR).The product of PCR was then purified and sequenced. The result was reviewed and analyzed further with other published articles. Results The patient presented with polyuria, polydipsia and short stature. Water restriction test and DDAVP test were made to confirm the diagnosis of nephrogenic diabetes insipidus. Gene sequencing found the exon2 of AVPR2 had a C636T mutation. The patient height and weight were below the