Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
Bottom Line: Most of these patients do not respond to treatment with the (K(ATP)) channel agonist diazoxide.Testing of family members showed that the mutations had arisen de novo with dominant inheritance in one pedigree.The identification of dominant vs recessive mutations does not predict clinical course but it is important for estimating the risk of HH in future siblings and offspring.
Affiliation: Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.Show MeSH
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Mentions: Histological analysis of pancreatic material from the four probands with dominant ABCC8 mutations showed large giant endocrine nuclei in scattered cells that stained positive for insulin antibodies, which is not dissimilar to the changes that are observed in patients with recessive ABCC8 mutations (Table 1 and Fig. 2). Pancreatic polypeptide-positive cells were also observed and immunostaining for somatostatin and glucagon was unremarkable.
Affiliation: Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.