Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
Date
2014-12Journal
European journal of endocrinology / European Federation of Endocrine SocietiesType
Journal ArticlePublisher
European Society of EndocrinologyDOI
10.1530/EJE-14-0353Rights
Archived with thanks to European journal of endocrinology / European Federation of Endocrine SocietiesMetadata
Show full item recordAbstract
Congenital hyperinsulinism (CHI) has two main histological types: diffuse and focal. Heterozygous paternally inherited ABCC8/KCNJ11 mutations (depending upon whether recessive or dominant acting and occurrence of somatic maternal allele loss) can give rise to either phenotype. However, the relative proportion of these two phenotypes in a large cohort of CHI patients due to paternally inherited heterozygous ABCC8/KCNJ11 mutations has not been reported.