%0 Journal Article
%T Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time
%A Caroline Hall
%A Indraneel Banerjee
%A Jacqueline Nicholson
%A Karen E. Cosgrove
%A Lindsey Rigby
%A Louise Bowden
%A Maria Salomon-Estebanez
%A Mark J. Dunne
%A Mars Skae
%A Nuala Murphy
%A Raja Padidela
%A Ross Craigie
%A Sarah E. Flanagan
%A Sian Ellard
%A Tabitha Randell
%A Zainab Mohamed
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0547-3
%X 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
%K Hypoglycaemia
%K Congenital hyperinsulinism
%K Insulin
%K Genetics
%K Mutations
%K Diazoxide
%K Octreotide
%K Neurodevelopment
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133749/