Inheritance of Mildly Activating ABCC8 Mutation From a Mother With MODY Causes Permanent Neonatal Diabetes Mellitus (NDM) in Two Siblings Who Also Carry a Second Inactivating Mutation: Genetic Testing Allows for Improved Treatment With Sulfonylureas (SU)

Background: Heterozygous activating mutations in KCNJ11 or ABCC8 are the most common cause of neonatal diabetes (NDM). ABCC8 (SUR1) mutations more often cause transient NDM. Inactivating ABCC8 mutations can cause congenital hyperinsulinism (HI), but very rarely will such mutations be inherited toget...

Descripción completa

Detalles Bibliográficos
Autores principales: Salguero Bermonth, Maria Victoria, Letourneau-Freiberg, Lisa, Devine, Nancy, Greeley, Siri Atma W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Diabetes Mellitus and Glucose Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089813/
http://dx.doi.org/10.1210/jendso/bvab048.923

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089813/
http://dx.doi.org/10.1210/jendso/bvab048.923

Ejemplares similares