A NOVEL HOMOZYGOUS MUTATION IN THE KCNJ11 GENE p.F315I OF A NEONATE WITH CONGENITAL HYPERINSULINISM AND SUCCESFUL MANAGEMENT BY SIROLIMUS.

CONCLUSION: We present a novel homozygous p.F315I mutation in the KCNJ11 gene leading to diazoxide-unresponsive CHI in a neonate. This case illustrates challenges associated with the diagnosis and management of CHI, as well as successful therapy with sirolimus. PMID: 27181099 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research