Clinical, glycometric features and treatment in a family with monogenic diabetes due to a new mutation in the insulin gene

• Published in: Endocrinología, diabetes y nutrición. Vol. 71; no. 2; pp. 77 - 82
• Main Authors: Pérez López, Paloma, Bahillo Curieses, Pilar, Fernández, Pablo, Martínez, Rosa, Delgado, Esther, Ortolá, Ana, de Luis, Daniel, Díaz-Soto, Gonzalo
• Format: Journal Article
• Language: English
• Published: Spain Elsevier España, S.L.U 01.02.2024
• Subjects: C-peptide; Continuous glucose monitoring; Diabetes monogénica; Endocrinology and Metabolism; Gen de la insulina; Insulin gene; Monitorización continua de glucosa; Monogenic diabetes; Péptido C; Continuous glucose monitoring; Monitorización continua de glucosa; C-peptide; Monogenic diabetes; Gen de la insulina; Diabetes monogénica; Insulin gene; Péptido C
• ISSN: 2530-0180; 2530-0180
• DOI: 10.1016/j.endien.2024.03.006

AbstractMonogenic diabetes caused by changes in the gene that encodes insulin (INS) is a very rare form of monogenic diabetes (<1%). The aim of this work is to describe the clinical and glycaemic control characteristics over time from four members of a family diagnosed with monogenic diabetes with the novel mutation: c.206del,p.(Gly69Aalfs*62) located in exon 3 of the gene INS. 75% are females, with debut in adolescence and negative autoimmunity. In all cases, C-peptide is detectable decades after diagnosis (>0.6 ng/ml). Currently, patients are being treated either with insulin in a bolus-basal regimen, oral antidiabetics or hybrid closed loop system. Monogenic diabetes due to mutation in the INS is an entity with heterogeneous presentation, whose diagnosis requires high suspicion and presents an important clinical impact. Given the lack of standards in this regard, therapy must be individualized, although insulin therapy could help preserve beta cell functionality in these subjects.