Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes
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Zhu Ming-Qiang
Abstract
Background
To investigate the clinical and molecular characteristics of Chinese children with maturity onset diabetes of the young (MODY).
Methods
A total of 42 Chinese patients suspected MODY referred to our unit from 2014 to 2018 were enrolled. Mutational analysis of monogenic diabetes mellitus genes was performed by next-generation sequencing and confirmed by Sanger sequencing.
Results
There were 28 males (66.7%) and 14 females (33.3%) with a mean age of 9.49 ± 3.46 years (range, 1.4–15.3 years) and a mean birth weight of 3.38 ± 0.49 kg (range, 2.55–4.90 kg). Among these patients, 15 patients had polyuria, polydipsia or weight loss. Two patients (4.8%) were obese and six (14.3%) were overweight. Moreover, 13 patients (30.9%) had a family history of diabetes. Thirty variants were identified in 28 patients. Twenty-six variants in 25 patients were pathogenic or likely pathogenic genes (59.5%, 25/42), including 15 patients (60.0%, 15/25) with GCK mutation, four (16.0%, 4/25) with PAX4 mutation, three (12.0%, 3/25) with HNF4A mutation, one (4.0%, 1/25) with INS mutation, one (4.0%, 1/25) with NEUROD1 mutation and one (4.0%, 1/25) with HNF1A mutation. Nine mutations (36.0%, 9/25) were novel. There was no difference between mutation-suspected patients and MODY-confirmed patients except for a 2-h glucose increment in an oral glucose tolerance test (OGTT), while the GCK-MODY had lower glycated hemoglobin (HbA1c) and a significantly smaller 2-h glucose increment in an OGTT compared with transcription factor MODYs. The GCK-MODY was identified by incidental hyperglycemia without glycosuria. GCK-MODY without drug management and hepatocyte nuclear factor-1 alpha (HNF4A) or HNF1A-MODY with sulfonylurea therapy obtained good glucose controlling.
Conclusions
Mutation of the GCK gene is the most common in MODY patients in China followed by PAX4. The screening criteria can improve the cost-effectiveness of disease diagnosis and treatment. A precise molecular diagnosis would lead to optimal treatment of the patients.
Acknowledgments
We want to thank the patients and their parents for participating in this study. This work was supported by the National Health and Family Planning Commission Scientific Research-Zhejiang major medical and health science fund “Study on Early Identification and Standardized Treatment of Children Metabolic Syndrome” (2018).
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Conflict of interest: There are no competing interests.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
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Artikel in diesem Heft
- Frontmatter
- Review
- Effect of safflower yellow on early type II diabetic nephropathy: a systematic review and meta-analysis of randomized controlled trials
- Original Articles
- Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
- Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
- Assessment of retinal thickness as a marker of brain masculinization in children with congenital adrenal hyperplasia: a pilot study
- Auditory event-related potentials demonstrate early cognitive impairment in children with subclinical hypothyroidism
- Cardiovascular risk factors in children with type 1 diabetes mellitus
- The relationship between serum FGF-23 concentration and insulin resistance, prediabetes and dyslipidemia in obese children and adolescents
- The metabolic consequences of overweight in a cohort of children with type 1 diabetes
- The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience
- Growth screening in children aged 3–5 years: a useful tool for public health programs in community pediatrics
- Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients
- Determinants for low bone mineral density in pre-school children: a matched case-control study in Wuhan, China
- Genetic polymorphisms associated with obesity and non-alcoholic fatty liver disease in Asian Indian adolescents
- Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes
- Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series
- Case Reports
- Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
- A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency
- Diagnosis of cyclic Cushing’s disease manifests as early morning hyperglycemia in a patient with previously well-controlled type 1 diabetes
- Short Communication
- Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress
