AI Article Synopsis
- Transient and permanent neonatal diabetes mellitus (NDM) are rare conditions that occur in infants, typically diagnosed within the first 6 months of life and linked to single gene defects rather than type 1 diabetes.
- * Genetic analysis revealed a novel variant in the HNF4A gene in a very low birth weight neonate who developed diabetes shortly after birth but achieved normal blood sugar levels after one month of insulin treatment.
- * The study concludes that the unique HNF4A variant associated with transient NDM may have been influenced by an additional variant in the KCNJ11 gene and the infant's premature birth.
Article Abstract
Background: Transient and permanent neonatal diabetes mellitus (NDM), usually defined as diabetes diagnosed within the first 6 months of life, are rare conditions occurring in 1:90,000-260,000 live births. The origin of NDM is rarely related to type 1 diabetes, but rather to single gene defects.
Methods: Genetic analysis was performed using targeted parallel sequencing including 323 diabetes genes. Data were filtered by a locally developed program.
Results: A very low birth weight neonate born at 28 weeks postmenstrual age developed diabetes 13 days after birth. The patient was treated with continuous subcutaneous insulin infusion. After 1 month, insulin treatment could be stopped. At 18 months of age, the child was normoglycemic and developing normally. Genetic analysis revealed a novel variant (p.Pro190Leu) in HNF4A, which is located in the ligand binding domain of the transcription factor, and the p.Glu23Lys variant in KCNJ11, which is associated with type 2 diabetes.
Conclusion: Here, we describe a novel HNF4A variant associated with transient NDM in a premature infant. We hypothesize that the neonatal phenotype previously described in carriers of HNF4A mutations was modified by the additional variant in KCNJ11 and prematurity.
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| http://dx.doi.org/10.1159/000437378 | DOI Listing |
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