目的 探讨精氨酸加压素受体2（AVPR 2）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.