ABCMdb

PMID: 15916932

Hussain K
Congenital hyperinsulinism.
Semin Fetal Neonatal Med. 2005 Aug;10(4):369-76., [PubMed]

Sentences

No. Mutations Sentence Comment

116 ABCC8 p.Glu1506Lys ABCC8 p.Glu1506Lys Natural history of CHI There is now some evidence to show that the natural history of CHI is a slow progressive loss of b-cell function, and this may be due to the increased b-cell apoptosis.46 It has been shown that patients with CHI who have had their pancreas removed, and who have mutations in the ABCC8 (SUR1) gene, have increased number of apoptotic cells in focal lesions.47 The precise mechanism of apoptosis is unclear but may be related to the increased intracellular calcium concentrations as a result of unregulated calcium entry.48 A unique example of the natural history of CHI is illustrated by the dominant heterozygous missense mutation (E1506K) in the sulphonylurea receptor ABCC8 gene in a large Finnish family.49 In the infancy period heterozygous E1506K carriers of this mutation have a mild form of CHI which is responsive to diazoxide.49 In early adulthood this mutation causes loss of insulin secretory capacity with glucose intolerance, and then in middle age diabetes mellitus develops. Login to comment