One case of Neonatal Diabetes Mellitus caused by ABCC8 gene mutation and literature review
10.3760/cma.j.cn101721-20230228-000068
- VernacularTitle:ABCC8基因突变致新生儿糖尿病1例并文献复习
- Author:
Wenbo LIU
1
;
Yanzhang YANG
;
Xin WANG
;
Lei LUO
;
Mengmeng LI
;
Fengqin CHEN
Author Information
1. 河北省人民医院儿科，石家庄 050051
- Keywords:
Neonatal diabetes mellitus;
ABCC8 gene;
Gene mutation;
Sulfonyluresa
- From:
Clinical Medicine of China
2023;39(5):347-351
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical characteristics and gene sequencing results of NDM, so as to provide evidence for clinical diagnosis and treatment .Methods:Clinical data of 1 child diagnosed with NDM in Hebei People's Hospital in January 2021 were retrospectively analyzed, and DNA gene sequencing was performed in the peripheral blood of the child, and relevant literatures were reviewed.Results:The child was born with a weight of 2.2kg. On the second day after birth, blood glucose significantly increased and insulin and C-peptide levels decreased. After 14 days of insulin treatment, hyperglycemia was still present, which was consistent with the diagnosis of NDM. Genetic testing indicated that there were missense mutations of newborn compound heterozygote in ABCC8 gene: c. 752G > A (p.G251E), c. 772A > G (p.R258G). The mutation of c. 772A > G in ABCC8 gene had not been reported before, and sulfonylureas were effective for the treatment of the child.Conclusion:NDM is a rare monogenic genetic disease with a lack of specificity in clinical manifestations. For children diagnosed or suspected of NDM, genetic testing should be actively carried out, which is of great significance for clinical diagnosis, treatment and prognosis.
