Clinical and genetic characteristics of congenital hyperinsulinism in Norway: A nationwide cohort study.

Christoffer Drabløs VeldeJanne MolnesSiren BerlandPal Rasmus Njolstad Anders Molven

Published in: The Journal of clinical endocrinology and metabolism (2024)

Individuals with disease-causing ABCC8 variants dominated our cohort. Patients with known genetic etiology had earlier and more severe disease-onset than genetically unsolved patients.

Keyphrases

end stage renal disease
copy number
ejection fraction
genome wide
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
early onset
gene expression
patient reported outcomes