ArticlePediatrics2016
Prematurity and Genetic Testing for Neonatal Diabetes.
Article in Pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 34 citations in OpenAlex.
- Correlation between hyperglycemia and glycated albumin with retinopathy of prematurity.Scientific reports · 2021Trial
- Insulin Delivery Technology for Treatment of Infants with Neonatal Diabetes Mellitus: A Systematic Review.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2024Review
- The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.The Journal of clinical endocrinology and metabolism · 2024Article
- Preterm birth: A neuroinflammatory origin for metabolic diseases?Brain, behavior, & immunity - health · 2024Review
- Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.Pediatric diabetes · 2024Article
- Continuous Glucose Monitoring in Transient Neonatal Diabetes Mellitus-2 Case Reports and Literature Review.Diagnostics (Basel, Switzerland) · 2023Review
- Review
- MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra-pancreatic congenital defects presenting in severe diabetic ketoacidosis.Journal of diabetes investigation · 2023Review
- Correlation of C-Peptide With Complications Observed in Children and Adolescents With Type 1 Diabetes in Tanzania: A Cross-Sectional Survey.Global pediatric health · 2023Article
- Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in TurkeyJournal of clinical research in pediatric endocrinology · 2021Article
- Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KFrontiers in endocrinology · 2021Article
- Human Pluripotent Stem Cells to Model Islet Defects in Diabetes.Frontiers in endocrinology · 2021Review
- Genetic Spectrum of Neonatal Diabetes.Balkan journal of medical genetics : BJMG · 2020Article
- Detection and analysis of glucose metabolism-related genes in childhood diabetes using targeted next-generation sequencing: In pediatric population-a hospital-based study.Experimental and therapeutic medicine · 2020Article
- Recent Advances in Neonatal Diabetes.Diabetes, metabolic syndrome and obesity : targets and therapy · 2020Review
- Congenital forms of diabetes: the beta-cell and beyond.Current opinion in genetics & development · 2018Review
- Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes.Reviews in endocrine & metabolic disorders · 2018Review
- Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.Clinics in perinatology · 2018Review
- Neonatal diabetes mellitus: improved screening and early management of an underestimated disease.Clinical case reports · 2018Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundHyperglycemia in premature infants is usually thought to reflect inadequate pancreatic development rather than monogenic neonatal diabetes. No studies, to our knowledge, have investigated the prevalence of monogenic forms of diabetes in preterm infants.
methodsWe studied 750 patients with diabetes diagnosed before 6 months of age. We compared the genetic etiology and clinical characteristics of 146 preterm patients born <37 weeks and compared them with 604 born ≥37 weeks.
resultsA genetic etiology was found in 97/146 (66%) preterm infants compared with 501/604 (83%) born ≥37weeks, P < .0001. Chromosome 6q24 imprinting abnormalities (27% vs 12%, P = .0001) and GATA6 mutations (9% vs 2%, P = .003) occurred more commonly in preterm than term infants while mutations in KCNJ11 were less common (21 vs 34%, P = .008). Preterm patients with an identified mutation were diagnosed later than those without an identified mutation (median [interquartile range] 35 [34 to 36] weeks vs 31 [28 to 36] weeks, P < .0001). No difference was seen in other clinical characteristics of preterm patients with and without an identified mutation including age of presentation, birth weight, and time to referral.
conclusionsPatients with neonatal diabetes due to a monogenic etiology can be born preterm, especially those with 6q24 abnormalities or GATA6 mutations. A genetic etiology is more likely in patients with less severe prematurity (>32 weeks). Prematurity should not prevent referral for genetic testing as 37% have a potassium channel mutation and as a result can get improved control by replacing insulin with sulphonylurea therapy.
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