Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus.
10.3760/cma.j.cn511374-20200607-00416
- VernacularTitle:七例新生儿期发病的先天性肾性尿崩症患儿的临床及分子遗传学研究
- Author:
Xiaoyun DONG
1
;
Huiru DONG
;
Wenqing KANG
;
Hong XIONG
;
Bangli XU
;
Fatao LIN
;
Xuan ZHENG
Author Information
1. Department of Neonatal Medicine, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450066, China. dongxiaoyun572@sohu.com.
- Publication Type:Journal Article
- MeSH:
Aquaporin 2/genetics*;
Child;
Diabetes Insipidus, Nephrogenic/genetics*;
Diabetes Mellitus;
Humans;
Infant, Newborn;
Male;
Molecular Biology;
Mutation;
Pedigree;
Receptors, Vasopressin/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(12):1185-1189
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI).
METHODS:Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results.
RESULTS:The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645_646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic.
CONCLUSION:AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees.
