Clinical characteristics and genetic analysis of 6 cases of neonatal diabetes mellitus
10.3760/cma.j.issn.2096-2932.2023.04.007
- VernacularTitle:新生儿期起病的6例糖尿病临床特征和基因分析
- Author:
Xiumei WU
1
;
Yujuan ZHAO
;
Chen CHEN
;
Gaigai BAI
;
Ying MA
Author Information
1. 西安交通大学附属西安市儿童医院新生儿科，西安 710003
- Keywords:
Neonatal diabetes mellitus;
Gene variant;
Insulin;
C-peptide;
Glibenclamide
- From:Chinese Journal of Neonatology
2023;38(4):225-229
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the clinical features, genetic characteristics and prognosis of neonatal diabetes mellitus (NDM).Methods:From January 2015 to January 2022, neonates with NDM admitted to the Department of Neonatology of our hospital were retrospectively reviewed.Their clinical manifestations, biochemical data, genetic tests, treatments and outcomes were analyzed.Results:A total of 6 cases with NDM were included, with 3 males and 3 females. All 6 cases were full-term infants, 5 were low birth weight infants and 1 had family history of diabetes. High blood glucose were found on 1~11 d (average 4 d) after birth. 3 cases were diagnosed during blood glucose screening for low birth weight and 3 cases were diagnosed due to infection and/or diabetic ketoacidosis. Blood C-peptide levels were below normal range in all 6 cases. Blood insulin levels were decreased in 5 cases and remained at the lower limit of normal range in 1 case. All infants received genetic tests and 4 showed abnormal results, including 2 cases of ABCC8 gene mutation [c.2060C>T (p.T687M), not reported; c.674T>C (p.L225P), reported], 1 case of KCNJ11 gene mutation [c.602G>A (p.Arg201His), not reported] and 1 case of paternal uniparental disomy (UPD)6q24 (reported). All 6 cases were treated with insulin. Glibenclamide was experimented to replace insulin in 3 cases and 1 case was successful. During follow-up (at the age 4 months~5 years old), 4 cases were diagnosed with transient NDM, 1 case with permanent NDM and 1 case died at the age of 4 months without classification. 1 case showed psychomotor and language delay and the others had otherwise normal development.Conclusions:Most NDM infants are low birth weight infants with reduced blood insulin and C-peptide.Transient NDM are common. Proactive genetic testing may help treatment.
