Department of Pediatrics, Division of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de São Paulo (UNIFESP), 731 Otonis St., Vila Clementino, São Paulo, SP, Brazil.
Department of Gastroenterology, Universidade Federal de São Paulo (UNIFESP), 1570 Loefgren St., Vila Clementino, São Paulo, SP, Brazil.
Orphanet J Rare Dis. 2023 May 5;18(1):105. doi: 10.1186/s13023-023-02720-7.
Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by changes 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.
To identify the frequency of significant hepatic fibrosis in A-T patients and to verify the association with metabolic alterations and degree of ataxia.
This is a cross-sectional study that included 25 A-T patients aged 5 to 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 was applied to assess the degree of ataxia. The following were calculated: Homeostasis Model Assessment-Insulin Resistance, Homeostasis Model Assessment-Adiponectin (HOMA-AD), Matsuda index, aspartate aminotransferase (AST): platelet ratio index, nonalcoholic fatty liver disease fibrosis score and BARD score. Liver ultrasonography and transient liver elastography by FibroScan were performed.
Significant hepatic fibrosis was observed in 5/25 (20%). Patients in the group with significant hepatic fibrosis were older (p < 0.001), had lower platelet count values (p = 0.027), serum 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), 120-min glycemia by OGTT (p = 0.049), HOMA-AD (p = 0.016) and degree of ataxia (p = 0.009).
A non-invasive diagnosis of significant hepatic fibrosis was observed in 20% of A-T patients associated with changes in liver enzymes, ferritin, increased HOMA-AD, and the severity of ataxia in comparison with patients without hepatic fibrosis.
共济失调毛细血管扩张症（A-T）是一种以多个器官和系统变化为特征的 DNA 修复障碍。临床方案的进步导致 A-T 患者的存活率提高，然而，疾病进展是明显的，主要通过代谢和肝脏变化。
确定 A-T 患者中显著肝纤维化的频率，并验证其与代谢改变和共济失调程度的关系。
这是一项横断面研究，纳入了 25 名年龄在 5 至 31 岁的 A-T 患者。收集了人体测量数据、肝脏、炎症、脂质代谢和葡萄糖生物标志物（口服葡萄糖耐量试验加胰岛素曲线-OGTT）。应用共济失调评分量表评估共济失调程度。计算以下指标：稳态模型评估胰岛素抵抗指数、稳态模型评估脂联素指数（HOMA-AD）、Matsuda 指数、天门冬氨酸氨基转移酶（AST）：血小板比值指数、非酒精性脂肪性肝病纤维化评分和 BARD 评分。进行了肝脏超声检查和 FibroScan 瞬时肝弹性检测。
观察到 5/25（20%）名患者存在显著肝纤维化。显著肝纤维化组患者年龄较大（p<0.001），血小板计数值较低（p=0.027），血清白蛋白（p=0.019）、高密度脂蛋白胆固醇（p=0.013）和 Matsuda 指数（p=0.044）；低密度脂蛋白胆固醇（p=0.049）、AST（p=0.001）、丙氨酸氨基转移酶（p=0.002）、γ-谷氨酰转移酶（p=0.001）、铁蛋白（p=0.001）、OGTT 120 分钟血糖（p=0.049）、HOMA-AD（p=0.016）和共济失调程度（p=0.009）较高。
观察到 20%的 A-T 患者存在非侵入性诊断的显著肝纤维化，与无肝纤维化患者相比，这些患者的肝酶、铁蛋白、HOMA-AD 升高以及共济失调程度增加有关。
