AUTHOR=Donath Helena , Hess Ursula , Kieslich Matthias , Theis Marius , Ohlenschläger Ute , Schubert Ralf , Woelke Sandra , Zielen Stefan 

TITLE=Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study

JOURNAL=Frontiers in Pediatrics

VOLUME=8

YEAR=2020

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2020.00317

DOI=10.3389/fped.2020.00317

ISSN=2296-2360

ABSTRACT=<p><bold>Background:</bold> 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.</p><p><bold>Objectives:</bold> To determine the evolution of diabetes and its prevalence in a larger A-T cohort.</p><p><bold>Methods:</bold> 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.</p><p><bold>Results:</bold> 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 (<italic>r</italic> = 0.79, <italic>p</italic> ≤ 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.</p><p><bold>Conclusion:</bold> 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 &gt; 12 years.</p>