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Article

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.

European journal of endocrinology - 1 May 2011

Banerjee I, Skae M, Flanagan S E, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove K E, Dunne M J, Clayton P E

Abstract excerpt

OBJECTIVE: In children with congenital hyperinsulinism (CHI), K(ATP) channel genes (ABCC8 and KCNJ11) can be screened rapidly for potential pathogenic mutations. We aimed to assess the contribution of rapid genetic testing to the clinical management of CHI. DESIGN: Follow-up observational study at two CHI referral hospitals. METHODS: Clinical outcomes such as subtotal pancreatectomy, (18)F-Dopa positron emission...

Topics

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ATP-Binding Cassette Transporters
Cohort Studies
Congenital Hyperinsulinism
Disease Management
Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Potassium Channels, Inwardly Rectifying

Receptors, Drug

Sulfonylurea Receptors

Source

Identifiers

PMID: 21378087
DOI: 10.1530/EJE-10-1136

Genes

ABCC8
KCNJ11
GCK
GLUD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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