Navegando por Palavras-chave "Ataxia-Telangiectasia"

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    Fibrose hepática e comprometimento neurológico em pacientes com Ataxia-telangiectasia: relação com resistência à insulina e inflamação
    (Universidade Federal de São Paulo (UNIFESP), 2021) Barreto, Talita Lemos Neves [UNIFESP]; Sarni, Roseli Oselka Saccardo [UNIFESP]; Universidade Federal de São Paulo
    Background: Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by alterations in several organs and systems. Advances in clinical protocols have resulted in increased survival of A-T patients, however disease progression is evident, mainly through metabolic and liver changes. Objective: Identify the frequency of significant liver fibrosis in A-T patients and verify the association with metabolic alterations and degree of ataxia. To assess the correlation between neurological features, nutritional status, and metabolic changes in A-T patients. Methods: Cross-sectional study that included 25 A-T patients aged between 5 and 31 years. Anthropometric data, liver, inflammatory, lipid metabolism and glucose biomarkers (oral glucose tolerance test with insulin curve - OGTT) were collected. The Cooperative Ataxia Rating Scale (ICARS) and Assessment and Rating of Ataxia (SARA) were applied to assess the degree of ataxia. The following were calculated: Homeostasis Model Assessment - Insulin Resistance (HOMA-IR), Homeostasis Model Assessment - Adiponectin (HOMA-AD), Matsuda index, aspartate aminotransferase (AST): platelet ratio index (APRI), nonalcoholic fatty liver disease fibrosis score (NFS) and BARD score. Liver ultrasonography and transient liver elastography (EHT) by FibroScan® were performed. Patients who presented values ≥7 kPa or changes in the APRI index and one of the scores (NFS or BARD) simultaneously were considered as suggestive of significant liver fibrosis. Results: The following were observed: dyslipidemia in 16/25 (64%), diabetes in 4/22 (18%), insulin resistance in 5/17 (29%), liver steatosis in 13/20 (65%) and suggestive of significant liver fibrosis in 5/25 (20%). Patients in the group with suggestive of significant liver fibrosis were older (p<0.001), they were lower values of platelet (p=0.027), albumin (p=0.019), HDL-c (p=0.013), and Matsuda index (p=0.044); and high values of LDL-c (p=0.049), AST (p=0.001), alanine aminotransferase (p=0.002), gamma glutamyl transferase (p=0.001), ferritin (p=0.001), blood glucose in 120 minutes in the OGTT (p=0.049), HOMA-AD (p=0.016), and degree of ataxia (p=0.009). Significant correlations were found between the scores on the ICARS scale and age (rho = 0.748; p <0.001), GGT (rho = 0.743; p <0.001), insulin levels (rho = 0.520; p = 0.016) and the Homeostasis Model Assessment for Insulin Resistance index (HOMA-IR) (rho = 0.585; p = 0.005) as well as the scores on the SARA scale and age (rho = 0.704; p <0.001), GGT (rho = 0.701; p <0.001), insulin levels (rho = 0.706; p <0.001) and HOMA-IR index (rho = 0.764; p <0.001). Conclusion: It was found suggestive of significant liver fibrosis in 20% of A-T patients, which was associated with the degree of ataxia and higher values of liver biomarkers, LDL-c, ferritin, HOMA-AD compared to A-T patients without liver fibrosis. The relevant correlation between severity of ataxia and disease progression with metabolic changes such as liver function impairment and insulin resistance reinforce the importance to monitoring metabolic changes and evaluate nutritional status in these patients.