AVPR2基因激活变异致顽固性低钠血症临床特征及随访结果  

Analysis of Clinical Characteristics and Gene Variation of Renal Antidiuretic Inappropriate Syndrome Caused by AVPR2 Gene Variation

作　　者：付东霞 吴雪[1] 王会贞[1] 刘晓景 陈永兴 卫海燕[1] FU Dong-xia;WU Xue;WANG Hui-zhen;LIU Xiao-jing;CHEN Yong-xing;WEI Hai-yan(Department of Endocrinology and Inborn Error of Metabolism,Children's Hospital Affiliated to Zhengzhou University,Henan Children’s Hospital,Zhengzhou Children's Hospital,Zhengzhou 450000,Henan Province,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院内分泌遗传代谢科,河南郑州450000

出　　处：《罕少疾病杂志》2025年第1期150-152,共3页Journal of Rare and Uncommon Diseases

摘　　要：目的 探讨AVPR2基因变异引起的顽固性低钠血症临床特征,以提高对该病的认识,减少低钠血症导致的脑损伤。方法 回顾分析河南省儿童医院收治的1例NSIAD并复习相关文献。结果 患儿男,3岁1月,因间断抽搐伴意识不清并低钠血症1月就诊,实验室检查提示低血钠、低血浆渗透压、高尿钠、高尿渗透压,二代测序示患儿AVPR2基因存在c.409C>T(R137C)变异,来自母亲。给予限液及补钠治疗,血钠升至正常,后期随访半年,生长发育及血钠均在正常范围。文献检索中英文文献71篇,共63例病例来自25个家庭,其中26例为婴儿或儿童起病(40%),多以惊厥起病(62.5%),其中5例为女童(19.2%)。共报道AVPR2基因变异5种,均为错义突变,其中R137C变异占87.5%,治疗以限水和口服尿素为主。结论 AVPR2基因激活性变异主要表现为顽固性低钠血症,各年龄段均可发生,早期诊断和治疗可避免严重低钠血症性脑损伤。Objective To investigate the clinical characteristics and mutation spectrum of children with renal improper antidiuretic syndrome(NSIAD)caused by AVPR2 gene variation.Methods The clinical data of a patient with NSIAD were retrospective analyzed,and the relevant literature was reviewed.Results The patient,male,3 years and 1 month old,visited the clinic due to intermittent convulsions accompanied by unconsciousness and hyponatremia for 1 month.Laboratory tests showed hyponatremia,low plasma osmotic pressure,high urine sodium and high urine osmotic pressure.Next-generation sequencing revealed a variant of c.409C>T(R137C)in the AVPR2 gene,which was derived from his unaffected mother.After the treatment of fluid restriction and sodium supplement,blood sodium rose to normal.During follow-up,blood electrolyte was normal.Seventy-one Chinese and English literatures were searched.A total of 63 cases were collected from 25 families,of which 26 cases were infants or children(40%),most of them were convulsive(62.5%),and 5 of them were girls(19.2%).A total of 5 mutations of AVPR2 gene were reported,all of which were missense mutations,among which R137C mutation accounted for 87.5%.Water restriction and oral urea were the main treatments.Conclusion NSAID is rare in clinic,with diversity of race,gene and clinical phenotype.As refractory hyponatremia occurs in infants,AVPR2 gene should be detected.Early diagnosis and treatment can correct refractory hyponatremia and reduce nerve damage.

关 键 词：低钠血症 NSIAD AVPR2基因 

分 类 号：R4[医药卫生—临床医学]