Sixty-six percent of preterm infants diagnosed with diabetes before age 6 months had genetic etiology
THURSDAY, Aug. 18, 2016 (HealthDay News) — Monogenic forms of diabetes can occur in preterm infants, according to a study published online Aug. 18 in Pediatrics.
Rachel E.J. Besser, M.B.B.S., Ph.D., from the University of Exeter Medical School in the United Kingdom, and colleagues studied 750 patients with diabetes diagnosed before 6 months of age. The genetic etiology and clinical characteristics were compared for 146 preterm patients born before 37 weeks and 604 patients born at 37 weeks or later.
The researchers found that 66 percent of preterm infants had a genetic etiology, compared with 83 percent of those born at 37 weeks or later (P < 0.0001). Preterm infants more commonly had chromosome 6q24 imprinting abnormalities (27 versus 12 percent; P = 0.0001) and GATA6 mutations (9 versus 2 percent; P = 0.003) compared to term infants, while mutations in KCNJ11 were less common in preterm infants (21 versus 34 percent; P = 0.008). Diagnosis was later for preterm patients with an identified mutation than for those without an identified mutation (median 35 versus 31 weeks; P < 0.0001). There were no differences noted in other clinical characteristics for preterm patients with and without an identified mutation.
“Patients with neonatal diabetes due to a monogenic etiology can be born preterm, especially those with 6q24 abnormalities or GATA6 mutations,” the authors write. “Prematurity should not prevent referral for genetic testing.”
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