Progressive Liver Disease in Patients With Ataxia Telangiectasia.
Ataxia telangiectasia
ataxia score
hepatic steatosis
liver disease
neurodegeneration
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2019
2019
Historique:
received:
15
05
2019
accepted:
21
10
2019
entrez:
3
12
2019
pubmed:
4
12
2019
medline:
4
12
2019
Statut:
epublish
Résumé
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,
Identifiants
pubmed: 31788461
doi: 10.3389/fped.2019.00458
pmc: PMC6856634
doi:
Types de publication
Journal Article
Langues
eng
Pagination
458Informations de copyright
Copyright © 2019 Pommerening,Woelke, Theis, Heß, Knop, Herrmann, Krauskopf, Kieslich, Schubert and Zielen.
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