X-linked congenital renal diabetes insipidus caused by arginine vasopressin receptor 2 gene mutation: 3 case report and reviewed the literature
10.3760/cma.j.cn101721-20241126-00391
- VernacularTitle:AVPR2基因突变致X连锁CNDI 3例报告并文献复习
- Author:
Songbai ZHU
1
;
Xiaolin WU
1
Author Information
1. 湖北省妇幼保健院儿童肾病风湿免疫科，武汉 430070
- Publication Type:Journal Article
- Keywords:
Nephrogenic diabetes insipidus;
Gene mutation;
AVPR2 gene;
Child
- From:
Clinical Medicine of China
2025;41(4):294-299
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the significance of genetic diagnosis, clinical characteristics and treatment of congenital renal diabetes insipidus with arginine vasopressin receptor 2 ( AVPR2). Methods:Clinical data of three patients diagnosed as diabetes insipidus were retrospectively analyzed.Results:The three cases were 3-month, 5-month and 6-month male infants, respectively. The main manifestations were repeated fever and growth retardation with hypernatremia. Polydipsia, polyuria and persistent hypogravity uria appeared during the course . In case 1, the AVPR2 exon c.613_c.614del resulted in amino acid change p.Y205Cfs*53. The proband mother was a mutation carrier of AVPR2 gene, and the child was hemizygous and the mother was heterozygous. In case 2, there was a hemizygotic mutation in AVPR2 gene: c.255C>A(p.SP85Glu), which appeared to be a missense mutation. The father had no mutation, the mother had a heterozygous mutation, the aunt had no mutation, and the eldest brother had a hemizygous mutation. There was one hemizygotic variation in the AVPR2 gene in patient 3: c.167G>A(P.LY56ASP), which was a missense mutation. The father had no mutation, the mother had a heterozygous mutation. The minimum allele frequencies of the gene variants in case 2 and case 3 were not recorded in the reference population gene frequency database. The urine volume of 3 children was significantly reduced after treatment with hydrochlorothiazide and amiloride.After genetic test, all three cases were diagnosed as congenital renal diabetes insipidus caused by AVPR2 gene mutation. Conclusion:Genetic testing benefits to the early diagnosis of congenital renal diabetes insipidus.
