ArticleOrphanet journal of rare diseases2017
Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- Dietary intakes and nutritional issues in inborn errors of immunity: a systematic review.Frontiers in immunology · 2024Pooled it
- Pooled it
- Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.Orphanet journal of rare diseases · 2025Article
- Quantification of liver fat fraction using T1-weighted mDixon MRI in young patients with ataxia telangiectasia undergoing whole-body MRI: an exploratory study.Orphanet journal of rare diseases · 2025Article
- The Care and Management of Children and Young People with Ataxia Telangiectasia Provided by Nurses and Allied Health Professionals: a Scoping Review.Cerebellum (London, England) · 2024Article
- Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia.Orphanet journal of rare diseases · 2023Article
- Liver Assessment in Patients with Ataxia-Telangiectasia: Transient Elastography Detects Early Stages of Steatosis and Fibrosis.Canadian journal of gastroenterology & hepatology · 2023Article
- Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia.Antioxidants (Basel, Switzerland) · 2022Review
- Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers.Orphanet journal of rare diseases · 2021Article
- Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives.Journal of multidisciplinary healthcare · 2021Review
- Review
- Classic ataxia-telangiectasia: the phenotype of long-term survivors.Journal of neurology · 2020Article
- Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study.Frontiers in pediatrics · 2020Article
- Diversity of ATM gene variants: a population-based genome data analysis for precision medicine.Human genomics · 2019Article
- Progressive Liver Disease in Patients With Ataxia Telangiectasia.Frontiers in pediatrics · 2019Article
- Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.BMC pediatrics · 2018Article
- Generic Substitution of Orphan Drugs for the Treatment of Rare Diseases: Exploring the Potential Challenges.Drugs · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAtaxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of cardiovascular disease was recently associated as an extended phenotype of the disease. We aimed to assess IR; liver involvement; carotid intima-media thickness (cIMT) and metabolic alterations associated to cardiovascular risk in A-T patients, and relate them with age.
resultsGlucose metabolism alterations were found in 54.6% of the patients. Hepatic steatosis was diagnosed in 11/17 (64.7%) A-T patients. AST/ALT ratio > 1 was observed in 10/17 (58.8%). A strong positive correlation was observed between insulin sum concentrations with ALT (r = 0.782, p < 0.004) and age (r = 0.818, p = 0.002). Dyslipidemia was observed in 55.5% of the patients. The apolipoprotein (Apo-B)/ApoA-I ratio (r = 0.619; p < 0.01), LDL/HDL-c (r = 0.490; p < 0.05) and the Apo-B levels (r = 0.545; p < 0.05) were positively correlated to cIMT.
conclusionsMetabolic disorders implicated in cardiovascular and liver diseases are frequently observed in adolescent A-T patients and those tend to get worse as they become older. Therefore, nutritional intervention and the use of drugs may be necessary.
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Registered trials
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