Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Insulin-dependent neonatal diabetes (ND) mellitus is uncommon with a frequency of 1/500,000 neonates in Europe. ND is characterised by hyperglycaemia, very low or undetectable insulin levels associated with intrauterine growth retardation and malformations. HLA haplotypes of juvenile diabetes or autoimmunity are not present in ND patients. Sporadic and familial forms are observed. ND could be persistent (PND) or transient (TND). Diabetes relapses occur in approximately 40% of TND patients. Hypothesis for ND aetiology such as pancreatic or beta pancreatic islets of Langerhans immaturity or abnormalities of pancreas organogenesis are postulated. Different genetic basis underlie transient or permanent forms though their clinical features do not allow to distinguish them. TND may in about 20-30% of the cases be associated with chromosome 6 paternal uniparental disomy. A candidate locus for an imprinted gene is mapped to 6q24. The permanent forms are less understood. Homozygous mutations of the IPF1/PDX1 (MODY4) and of the Glucokinase (GK, MODY2) genes have been reported. The association of a ND with a macroglossia should be a strong indicator for genetic testing. The genetic findings of a paternal disomy uniparental allows the prediction of a transient rather than a permanent form. Mutation in the Glucokinase gene should be sought in an infant with ND whose first degree relatives have glucose intolerance.
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PMID:[Insulin-dependent neonatal and infant diabetes: genetics and physiopathology]. 1208 68