摘要
目的探讨AVPR2基因突变所致先天性肾性尿崩症一家系的临床特征,提高对先天性肾性尿崩症的认识。方法收集先证者及其家系成员病史和外周血标本,通过生化检查、禁水—加压素试验、磁共振成像和基因检测,确诊为X-连锁隐性先天性肾性尿崩症。结果基因检测发现该家系AVPR2基因第2外显子存在1处突变,为c.1009C>T(p.R337X)无义突变,该位点突变致先证者、其弟和母亲都有尿崩症的临床表现。结论多尿、多饮及低比重尿是先天性肾性尿崩症的临床特征,基因检测可以精准诊断,并可指导优生优育。
Objective To investigate the clinical manifestation of congenital nephrogenic diabetes insipidus caused by AVPR2 gene mutation in one case for improving the understanding of the disease.Methods Medical histories and peripheral blood samples of proband and three family members were collected and final diagnoses of X-linked nephrogenic diabetes insipidus were made by biochemical tests,water-deprivation test,magnetic resonance imaging and AVPR2 gene.Results Gene testing revealed the nonsense mutation of c.1009 C>T(p.C337 X)in exon 2 of AVPR2 gene.Proband,his brother and mother had symptoms of diabetes insipidus.Conclusion Polyuria,polydipsia and low gravity of urine are the main clinical hallmarks of congenital nephrogenic diabetes insipidus.Genetic testing can make accurate diagnosis of congenital nephrogenic diabetes insipidus,and can further guide prenatal and postnatal care.
作者
魏素虹
吕亚亚
王金羊
刘佳
刘菊香
权金星
刘静
Wei Su-hong;Lü Ya-ya;Wang Jing-yang;Liu Jia;Liu Ju-xiang;Quan Jin-xing;Liu Jing(Department of Endocrinology,Gansu Provincial Hospital,Lanzhou 730000,China)
出处
《兰州大学学报（医学版）》
CAS
2020年第4期20-24,共5页
Journal of Lanzhou University（Medical Sciences）
基金
国家自然科学基金资助项目(81760147)
甘肃省人民医院院内科研项目(17GSSY7-4)
兰州市指导性科研项目(2019-2D-07)。
