TY  - JOUR
A1  - Donath, Helena
A1  - Heß, Ursula
A1  - Kieslich, Matthias
A1  - Theis, Marius
A1  - Ohlenschläger, Ute
A1  - Schubert, Ralf
A1  - Wölke, Sandra
A1  - Zielen, Stefan
T1  - Diabetes in patients with ataxia telangiectasia: A national cohort study
T2  - Frontiers in Pediatrics
N2  - Background: 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.
Objectives: To determine the evolution of diabetes and its prevalence in a larger A-T cohort.
Methods: 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.
Results: 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 (r = 0.79, p ≤ 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.
Conclusion: 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.
KW  - ataxia telangiectasia
KW  - diabetes
KW  - HbA1c
KW  - OGTT
KW  - diabetes therapy
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/54287
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-542872
SN  - 2296-2360
N1  - Copyright © 2020 Donath, Hess, Kieslich, Theis, Ohlenschläger, Schubert, Woelke and Zielen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
VL  - 8
IS  - Art. 317
SP  - 1
EP  - 8
PB  - Frontiers Media
CY  - Lausanne
ER  -