TY  - JOUR
A1  - Donath, Helena
A1  - Wölke, Sandra
A1  - Theis, Marius
A1  - Heß, Ursula
A1  - Knop, Viola
A1  - Herrmann, Eva
A1  - Krauskopf, Dorothea
A1  - Kieslich, Matthias
A1  - Schubert, Ralf
A1  - Zielen, Stefan
T1  - Progressive liver disease in patients with ataxia telangiectasia
T2  - Frontiers in Pediatrics
N2  - Ataxia telangiectasia (A-T) is a devastating multi-system disorder characterized by progressive cerebellar ataxia, immunodeficiency, genetic instability, premature aging and growth retardation. Due to better care the patients get older than in the past and new disease entities like disturbed glucose tolerance and liver disease emerge. The objective of the present investigation is to determine the evolution of liver disease and its relation to age and neurological deterioration. The study included 67 patients aged 1 to 38 years with classical A-T. At least two measurements of liver enzymes were performed within a minimum interval of 6 months in 56 patients. The median follow-up period was 4 years (1–16 years). A total of 316 liver enzyme measurements were performed. For analysis, patients were divided into two age groups (Group 1: <12 years; group 2: ≥12 years). In addition, ultrasound of the liver and Klockgether Ataxia Score (KAS) were analyzed. We found significantly higher levels of alpha-fetoprotein (AFP) (226,8 ± 20.87 ng/ml vs. 565,1 ± 24.3 ng/ml, p < 0.0001), and liver enzymes like ALT (23.52 ± 0.77 IU/L vs. 87.83 ± 5.31 IU/L, p < 0.0001) in patients in group 2. In addition, we could show a significant correlation between age and AFP, GGT, and KAS. Ultrasound revealed hepatic steatosis in 11/19 (57.9%) patients in group 2. One female patient aged 37 years died due to a hepato-cellular carcinoma (HCC). Liver disease is present in the majority of older A-T patients. Structural changes, non-alcoholic fatty liver disease and fibrosis are frequent findings. Progress of liver disease is concomitant to neurological deterioration.
KW  - Ataxia telangiectasia
KW  - liver disease
KW  - hepatic steatosis
KW  - neurodegeneration
KW  - ataxia score
Y1  - 2019
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/51889
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-518899
SN  - 2296-2360
N1  - Copyright © 2019 Pommerening,Woelke, Theis, Heß, Knop, Herrmann, Krauskopf, Kieslich, Schubert 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  - 7
IS  - Art. 458
SP  - 1
EP  - 8
PB  - Frontiers Media
CY  - Lausanne
ER  -