AVPR2基因突变致X连锁先天性肾性尿崩症一例报告  

X-linked congenital renal diabetes insipidus caused by AVPR2 gene mutation:a case report

作　　者：刘竹枫[1] 王文红[1] 张瑄[1] 陈文玉 LIU Zhu-feng;WANG Wen-hong;ZHANG Xuan;CHEN Wen-yu(Department of Nephrology,Tianjin Children’s Hospital,Tianjin 300074,China)

机构地区：[1]天津市儿童医院肾内科,300074

出　　处：《天津医药》2020年第2期141-145,共5页Tianjin Medical Journal

摘　　要：目的报告1例精氨酸加压素受体2(AVPR2)基因突变导致的先天性肾性尿崩症患儿,探讨AVPR2基因突变对先天性肾性尿崩症的临床意义。方法回顾性分析先证者的临床资料、先证者及其父母基因检测结果并复习相关文献,提取先证者及其父母的基因组DNA,PCR扩增AVPR2的全部外显子,扩增产物经纯化后行双向测序。结果患儿临床表现为反复发热及难以纠正的高钠高氯血症,患儿病初垂体核磁检查未见异常,复查后出现垂后叶短T1信号消失,临床不除外中枢性尿崩症,但禁水-加压素试验支持肾性尿崩症,给临床诊断造成困扰,曾试用醋酸去加压素片治疗无效,后基因检测结果证实先证者AVPR2基因亚区发现突变:c.359T>G导致氨基酸改变p.Met120Arg,该基因位于X染色体上,先证者母亲为AVPR2基因突变携带者。临床应用氢氯噻嗪及阿米洛利治疗患儿尿量显著减少,证实为先天性肾性尿崩症。结论婴幼儿期先天性肾性尿崩症较少见、临床表现非特异,可仅表现为反复发热及电解质紊乱,给临床诊断造成困扰,AVPR2基因检测可用于先天性肾性尿崩症的筛查及基因诊断。Objective A case of congenital renal diabetes insipidus caused by mutation of arginine vasopressin receptor 2(AVPR2)gene was reported to explore the clinical significance of AVPR2 gene mutation in congenital nephrotic diabetes insipidus and improve the understanding of the disease.Methods The clinical data of proband and his parents were retrospectively analyzed,and the related literature was reviewed.All exons of AVPR2 were amplified by PCR,and the amplified products were purified and sequenced in two directions.Results The clinical manifestations of the children were recurrent fever and hypernatremia,and hyperchloremia was difficult to correct.There was no abnormality in pituitary nuclear magnetic resonance in the child at the beginning.Short T1 signal disappeared in the posterior pituitary lobe after reexamination.Central diabetes insipidus was not excluded from clinical practice.However,vasopressin test supported renal diabetes insipidus,which caused troubles in clinical diagnosis.The treatment of vasopressin acetate tablets was ineffective.The results of gene analysis confirmed that mutations were found in the subregion of AVPR2 gene in the proband:c.359T(thymine)>G(guanine)caused amino acid changes:p.Met120Arg,which was located on the X chromosome,and the mother of the patient was the carrier of the mutation of AVPR2 gene.Clinical application of hydrochlorothiazide and amiloride in the treatment of the child with urinary volume significantly reduced,confirmed as congenital renal diabetes insipidus.Conclusion Congenital renal diabetes insipidus in infants and young children is rare and its clinical manifestations are not specific.It can only be manifested by repeated fever and electrolyte disturbance,which causes troubles in clinical diagnosis.AVPR2 gene detection can be used for screening and gene diagnosis of congenital renal diabetes insipidus.

关 键 词：尿崩症 肾性 先天性肾性尿崩症 AVPR2基因 基因突变 儿童 

分 类 号：R725.9[医药卫生—儿科]