Congenital hyperinsulinism: Clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy

Conclusion: Biallelic ABCC8 mutations may result in diazoxide-responsive CHI. Irrespective of the molecular genetic analysis results, accurate assessment of the response to diazoxide should be undertaken before classifying a patient as diazoxide-responsive or unresponsive CHI.
Source: International Journal of Pediatric Endocrinology - Category: Endocrinology Authors: Source Type: research