Article
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
Orphanet journal of rare diseases - 1 Dec 2016
Salomon-Estebanez Maria, Flanagan Sarah E, Ellard Sian, Rigby Lindsey, Bowden Louise, Mohamed Zainab, Nicholson Jacqueline, Skae Mars, Hall Caroline, Craigie Ross, Padidela Raja, Murphy Nuala, Randell Tabitha, Cosgrove Karen E, Dunne Mark J, Banerjee Indraneel
Abstract excerpt
BACKGROUND: 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...
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