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-  2016 

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

DOI: 10.1186/s13023-016-0547-3

Keywords: Hypoglycaemia, Congenital hyperinsulinism, Insulin, Genetics, Mutations, Diazoxide, Octreotide, Neurodevelopment

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Abstract:

Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review variation in severity and outcomes in patients with K-ATP CHI treated by medical therapy

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