Early transition from insulin to sulfonylureas in neonatal diabetes and follow-up: Experience from China

Autor: Jing Cheng, Li Liu, Xiuzhen Li, Minyan Jiang, Huiying Sheng, Xiaojian Mao, Tzer Hwu Ting, Xinjiang Huang, Aijing Xu
Rok vydání: 2017
Předmět:
Male
Endocrinology
Diabetes and Metabolism
medicine.medical_treatment
DNA Mutational Analysis
Chromosome Disorders
Sulfonylurea Receptors
Infant
Newborn
Diseases
Cohort Studies
0302 clinical medicine
Neonatal diabetes mellitus
Glyburide
Insulin
030212 general & internal medicine
biology
medicine.diagnostic_test
Maintenance dose
Hospitals
Pediatric
Chromosomes
Human
Pair 1
Female
Chromosome Deletion
Drug Monitoring
China
medicine.medical_specialty
medicine.drug_class
030209 endocrinology & metabolism
ABCC8
03 medical and health sciences
Internal medicine
Diabetes Mellitus
Internal Medicine
medicine
Humans
Hypoglycemic Agents
Potassium Channels
Inwardly Rectifying
Adverse effect
Glycemic
Genetic testing
Dose-Response Relationship
Drug
business.industry
Infant
Newborn
Infant
medicine.disease
Sulfonylurea
Endocrinology
Mutation
Pediatrics
Perinatology and Child Health
biology.protein
business
Follow-Up Studies
Zdroj: Pediatric Diabetes. 19:251-258
ISSN: 1399-543X
DOI: 10.1111/pedi.12560
Popis: Background Sulfonylurea therapy can improve glycemic control and ameliorate neurodevelopmental outcomes in patients suffering from neonatal diabetes mellitus (NDM) with KCNJ11 or ABCC8 mutations. As genetic testing results are often delayed, it remains controversial whether sulfonylurea treatment should be attempted immediately at diagnosis or doctors should await genetic confirmation. Objective This study aimed to investigate the effectiveness and safety of sulfonylurea therapy in Chinese NDM patients during infancy before genetic testing results were available. Methods The medical records of NDM patients with their follow-up details were reviewed and molecular genetic analysis was performed. Sulfonylurea transfer regimens were applied in patients diagnosed after May 2010, and glycemic status and side effects were evaluated in each patient. Results There were 23 NDM patients from 22 unrelated families, 10 had KCNJ11 mutations, 3 harbored ABCC8 mutations, 1 had INS mutations, 4 had chromosome 6q24 abnormalities, 1 had a deletion at chromosome 1p36.23p36.12, and 4 had no genetic abnormality identified. Sixteen NDM infants were treated with glyburide at an average age of 49 days (range 14-120 days) before genetic confirmation. A total of 11 of 16 (69%) were able to successfully switch to glyburide with a more stable glucose profile. The responsive glyburide dose was 0.51 ± 0.16 mg/kg/d (0.3-0.8 mg/kg/d), while the maintenance dose was 0.30 ± 0.07 mg/kg/d (0.2-0.4 mg/kg/d). No serious adverse events were reported. Conclusions Molecular genetic diagnosis is recommended in all patients with NDM. However, if genetic testing results are delayed, sulfonylurea therapy should be considered before such results are received, even in infants with newly diagnosed NDM.
Databáze: OpenAIRE
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