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Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype
- Source :
- Pediatric Diabetes. 21:932-941
- Publication Year :
- 2020
- Publisher :
- Hindawi Limited, 2020.
-
Abstract
- A precision medicine approach is used to improve treatment of patients with monogenic diabetes. Herein, we searched SU efficiency according to the genotype-phenotype correlation, dosage used, and side effects.Systematic review conducted according the PRISMA control criteria identifying relevant studies evaluating the in vivo and in vitro sensitivity of ATP-dependent potassium channels according to the characteristics of genetic mutation.Hundred and three selected articles with complete data in 502 cases in whom 413 (82.3%) had mutations in KCNJ11 (#64) and 89 in ABCC8 (# 56). Successful transfer from insulin to SU was achieved in 91% and 86.5% patients, respectively, at a mean age of 36.5 months (0-63 years). Among patients with KCNJ11 and ABCC8 mutations 64 and 46 were associated with constant success, 5 and 5 to constant failure, and 10 and 4 to variable degrees of reported success rate, respectively. The glibenclamide dosage required for each genotype ranged from 0.017 to 2.8 mg/kg/day. Comparing both the in vivo and in vitro susceptibility results, some mutations appear more sensitive than others to sulfonylurea treatment. Side effects were reported in 17/103 of the included articles: mild gastrointestinal symptoms and hypoglycaemia were the most common. One premature patient had an ulcerative necrotizing enterocolitis which association with SU is difficult to ascertain.Sulfonylureas are an effective treatment for monogenic diabetes due to KCNJ11 and ABCC8 genes mutations. The success of the treatment is conditioned by differences in pharmacogenetics, younger age, pharmacokinetics, compliance, and maximal dose used.
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
Genotype
medicine.drug_class
Neonatal diabetes
Endocrinology, Diabetes and Metabolism
030209 endocrinology & metabolism
Sulfonylurea Receptors
Infant, Newborn, Diseases
Young Adult
03 medical and health sciences
0302 clinical medicine
Internal medicine
Diabetes Mellitus
Internal Medicine
medicine
Humans
Hypoglycemic Agents
030212 general & internal medicine
Potassium Channels, Inwardly Rectifying
Child
Genetic Association Studies
Monogenic Diabetes
business.industry
Infant, Newborn
Infant
Middle Aged
Sulfonylurea
Potassium channel
Pharmacogenomic Testing
Sulfonylurea Compounds
Endocrinology
Child, Preschool
Mutation
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Female
business
Subjects
Details
- ISSN :
- 13995448 and 1399543X
- Volume :
- 21
- Database :
- OpenAIRE
- Journal :
- Pediatric Diabetes
- Accession number :
- edsair.doi.dedup.....c4e987fa5e6227a7542aa93947f04752