Permanent neonatal diabetes mellitus (PNDM) is defined as an diabetes mellitus that starts within the first six month of life. Antenatal growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive are commonly accompanying features. Several genes are involved in PNDM. Inheritance is autosomal dominant (KCNJ11 and INS), autosomal dominant or recessive (ABCC8), and autosomal recessive (GCK and PDX1).
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Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. |
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Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. |
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OMIM.ORG article Omim 606176 |
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Orphanet article Orphanet ID 99885 |
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Wikipedia article Wikipedia EN (Permanent_neonatal_diabetes_mellitus) |