Prematurity and Genetic Testing for Neonatal Diabetes
| Autor: | Deborah Mackay, Rachel E J Besser, I K Temple, Sarah E. Flanagan, Beverley M. Shields, Sian Ellard, M. Shepherd, Andrew T. Hattersley |
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| Rok vydání: | 2016 |
| Předmět: |
Genetic Markers
Male Pediatrics medicine.medical_specialty medicine.medical_treatment Birth weight 030209 endocrinology & metabolism Infant Premature Diseases Article 03 medical and health sciences 0302 clinical medicine Neonatal diabetes mellitus Interquartile range 030225 pediatrics Diabetes mellitus medicine Humans Genetic Testing Genetic testing medicine.diagnostic_test business.industry Insulin Infant Newborn Infant medicine.disease Diabetes Mellitus Type 1 Premature birth Pediatrics Perinatology and Child Health Mutation Etiology Female business Infant Premature |
| Zdroj: | Pediatrics. 138(3) |
| ISSN: | 1098-4275 |
| Popis: | BACKGROUND:Hyperglycemia 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.METHODS:We studied 750 patients with diabetes diagnosed before 6 months of age. We compared the genetic etiology and clinical characteristics of 146 preterm patients born RESULTS:A 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.CONCLUSIONS:Patients 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. |
| Databáze: | OpenAIRE |
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