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...

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Xehetasun bibliografikoak
Argitaratua izan da:J Endocr Soc
Egile Nagusiak: Salguero Bermonth, Maria Victoria, Letourneau-Freiberg, Lisa, Devine, Nancy, Greeley, Siri Atma W
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2021
Gaiak:
Diabetes Mellitus and Glucose Metabolism
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8089813/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.923
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