摘要
目的探讨精氨酸加压素受体2(AVPR2)基因变异导致的先天性肾性尿崩症(CNDI)合并尿路扩张、生长激素缺乏的临床表现。方法回顾分析1例CNDI合并尿路扩张、生长激素缺乏患儿的临床资料,及其家系基因检测结果。结果患儿,男,10岁11个月,自幼多饮、多尿、生长迟缓。经生长激素激发试验结合相关检查,诊断为肾性尿崩症、尿路扩张、生长激素缺乏症。基因检测显示患儿AVPR2基因第2外显子错义变异c.347(exon2)A>T(p.K116M),为新发变异,未在患儿父母及哥哥外周血中检出,确诊为CNDI。结论CNDI主要致病基因为AVPR2基因,可合并尿路扩张及身材矮小。
Objective To investigate the clinical manifestations of a case of congenital nephrogenic diabetes insipidus(CNDI)caused by AVPR2 gene variation with urinary tract dilatation and growth hormone deficiency.Methods The clinical data of a child with CNDI with urinary tract dilation and growth hormone deficiency and the results of genetic testing in his family were retrospectively analyzed.Results A boy,aged 10 years and 11 months,presented with polydipsia,polyuria and growth retardation since childhood.The boy was diagnosed with nephrogenic diabetes insipidus,urinary tract dilatation,and growth hormone deficiency through growth hormone stimulation tests and related examinations.Gene test showed that the missense variation of C.347(exon2)A>T(P.k116m)in the second exon of AVPR2 gene was a new variant,which was not detected in the peripheral blood of the child's parents and elder brother,and the child was diagnosed as CNDI.Conclusion The main pathogenic gene of CNDI is AVPR2 gene,and CNDI can be developed with urinary tract dilation and short stature.
作者
赵玲
刘晓静
ZHAO Ling;LIU Xiaojing(The First Affiliated Hospital of Anhui Medical University,Hefei 230000,Anhui,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2021年第12期912-915,共4页
Journal of Clinical Pediatrics
关键词
先天性肾性尿崩症
AVPR2基因
尿路扩张
生长激素缺乏症
congenital nephrogenic diabetes insipidus
AVPR2 gene
urinary tract dilation
growth hormone deficiency
