Clinical characteristics and genetic analysis of a child with specific type of diabetes mellitus caused by missense mutation of GATA6 gene.
10.3724/zdxbyxb-2023-0351
- VernacularTitle:一例GATA6基因变异引起儿童特殊类型糖尿病的临床特点及基因变异分析
- Author:
Lingwen YING
1
;
Yu DING
2
;
Juan LI
2
;
Qianwen ZHANG
2
;
Guoying CHANG
3
;
Tingting YU
4
;
Jian WANG
5
;
Zhongqun ZHU
6
;
Xiumin WANG
7
Author Information
1. Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. cynthia.ying613@gmail.com.
2. Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
3. Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. changguoying@126.com.
4. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
5. Central Laboratory, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China.
6. Department of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
7. Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. wangxiumin1019@126.com.
- Publication Type:Journal Article
- Keywords:
Case report;
Congenital heart disease;
GATA6 transcription factor;
Hyperosmolar hyperglycemic state;
Missense mutation;
Specific types of diabetes
- MeSH:
Male;
Child;
Humans;
Child, Preschool;
Infant;
Diabetes Mellitus, Type 2/complications*;
Mutation, Missense;
C-Peptide/genetics*;
China;
Insulin/genetics*;
Glucose;
Blood Glucose;
GATA6 Transcription Factor/genetics*
- From:
Journal of Zhejiang University. Medical sciences
2023;52(6):732-737
- CountryChina
- Language:English
-
Abstract:
A 2-year-old boy was admitted to Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine in Nov 30th, 2018, due to polydipsia, polyphagia, polyuria accompanied with increased glucose levels for more than 2 weeks. He presented with symmetrical short stature [height 81 cm (－2.2 SD), weight 9.8 kg (－2.1 SD), body mass index 14.94 kg/m2 (P10-P15)], and with no special facial or physical features. Laboratory results showed that the glycated hemoglobin A1c was 14%, the fasting C-peptide was 0.3 ng/mL, and the islet autoantibodies were all negative. Oral glucose tolerance test showed significant increases in both fasting and postprandial glucose, but partial islet functions remained (post-load C-peptide increased 1.43 times compared to baseline). A heterozygous variant c.1366C>T (p.R456C) was detected in GATA6 gene, thereby the boy was diagnosed with a specific type of diabetes mellitus. The boy had congenital heart disease and suffered from transient hyperosmolar hyperglycemia after a patent ductus arteriosus surgery at 11 months of age. Insulin replacement therapy was prescribed, but without regular follow-up thereafter. The latest follow-up was about 3.5 years after the diagnosis of diabetes when the child was 5 years and 11 months old, with the fasting blood glucose of 6.0-10.0 mmol/L, and the 2 h postprandial glucose of 17.0-20.0 mmol/L.
