Open AccessPermanent Neonatal Diabetes in a Patient with a KCNJ11/Q52R Mutation Accompanied by Intermittent Hypoglycemia and Liver Failure
Author(s) -
NatalieD Shaw,
JosephA Majzoub
Publication year - 2009
Publication title -
international journal of pediatric endocrinology/international journal of pediatric endocrinology
Language(s) - English
Resource type - Journals
eISSN - 1687-9856
pISSN - 1687-9848
DOI - 10.1186/1687-9856-2009-453240
Subject(s) - medicine , hypoglycemia , pediatrics , liver failure , diabetes mellitus , neonatal hypoglycemia , intensive care medicine , endocrinology , pregnancy , genetics , gestational diabetes , gestation , biology
The most common monogenic cause of neonatal diabetes is mutation in KCNJ11, which encodes a potassium channel in pancreatic beta cells. Some mutations in this gene, including Q52R, have been described in association with neurological deficits, but never with hepatic involvement. We report the second case of neonatal diabetes in a patient with a KCNJ11 Q52R mutation. This patient's clinical course did not include obvious neurological deficits despite the presence of prematurity, but did include transient hyperbilirubinemia, and recurrent hypoglycemia. The phenotypic spectrum of KCNJ11 mutations is variable and is likely influenced by additional genetic and environmental factors.