Article
Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000
Greer Ristan M, Shah Janaki, Jeske Yvette W, Brown David, Walker Rosslyn M, Cowley David, Bowling Francis G, Liaskou Daphne, Harris Mark, Thomsett Michael J, Choong Catherine, Bell John R, Jack Michelle M, Cotterill Andrew M
Abstract excerpt
In hyperinsulinism of infancy (HI), unregulated insulin secretion causes hypoglycemia. Pancreatectomy may be required in severe cases, most of which result from a defect in the beta-cell KATP channel, encoded by ABCC8 and KCNJ11. Pancreatic histology may be classified as diffuse or focal disease (the latter associated with single paternal ABCC8 mutations), indicated by the presence of islet cell nuclear...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.