Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study

• Published in: Frontiers in pediatrics 2020-07, Vol.8, p.317-317
• Main Authors: Donath, Helena, Hess, Ursula, Kieslich, Matthias, Theis, Marius, Ohlenschläger, Ute, Schubert, Ralf, Woelke, Sandra, Zielen, Stefan
• Format: Article
• Language: English
• Subjects: ataxia telangiectasia; diabetes; diabetes therapy; HbA1c; OGTT; Pediatrics
• ISSN: 2296-2360; 2296-2360
• DOI: 10.3389/fped.2020.00317

Ataxia telangiectasia (A-T) is a rare autosomal-recessive multisystem disorder characterized by pronounced cerebellar ataxia, telangiectasia, cancer predisposition and altered body composition. In addition, evidence is rising for endocrine dysfunction. To determine the evolution of diabetes and its prevalence in a larger A-T cohort. A retrospective analysis of the patient charts of 39 subjects from the Frankfurt A-T cohort was performed between August 2002 and 2018 concerning HbA1c and oral glucose tolerance (OGTT). The median follow-up period was 4 years (1-16 years). In addition, in 31 A-T patients aged 1 to 38 years HbA1c and fasting glucose were studied prospectively from 2018 to 2019. In the retrospective analysis, we could demonstrate a longitudinal increase of HbA1c. The prospective analysis showed a significant increase of HbA1c and fasting glucose with age ( = 0.79, ≤ 0.0001). OGTT has a good sensitivity for insulin resistance screening, whereas HbA1c can be used to evaluate individual courses and therapy response. Seven out of 39 (17.9%) patients suffered from diabetes. Metformin did not always lead to sufficient diabetes control; one patient was treated successfully with repaglinide. Diabetes is a common finding in older A-T patients and often starts in puberty. Our data clearly demonstrate the need for an annual diabetes screening in patients > 12 years.