Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by patients who present with diabetic ketoacidosis or unprovoked ketosis but do not necessarily have the typical phenotype of autoimmune type 1 diabetes. Multiple, severe forms of beta-cell dysfunction appear to underlie the pathophysiology of KPD. KPD can be classified into four A beta groups, based on the presence of glutamic acid decarboxylase (GAD)65, GAD67, or IA-2 autoantibodies (A+ or A-) and beta-cell functional reserve (beta+ or beta-). Homozygous carriers of the PAX4 R133W variant have an increased risk of KPD.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Diabetes mellitus
5A10 Type 1 diabetes mellitus
H01224 Ketosis-prone diabetes mellitus
Maldonado M, Hampe CS, Gaur LK, D'Amico S, Iyer D, Hammerle LP, Bolgiano D, Rodriguez L, Rajan A, Lernmark A, Balasubramanyam A
Title
Ketosis-prone diabetes: dissection of a heterogeneous syndrome using an immunogenetic and beta-cell functional classification, prospective analysis, and clinical outcomes.
