National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States of America.
National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States of America; Veterans Affairs Medical Center, Long Beach, CA, United States of America.
Mol Genet Metab. 2020 Aug;130(4):289-296. doi: 10.1016/j.ymgme.2020.05.006. Epub 2020 May 18.
Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic acid oxidation products in the joints and cardiovascular system. Aortic distensibility may be a non-invasive indicator of cardiovascular complications. Descending thoracic aortic distensibility in alkaptonuria has not been studied.
Patients diagnosed with alkaptonuria underwent Magnetic Resonance Imaging (MRI) and gated non-contrast and contrast-enhanced cardiovascular computed tomography. Using MRI cine images, aortic distensibility of the descending thoracic aorta was determined.
Seventy-six patients with alkaptonuria were imaged. When compared to literature normal values, aortic distensibility in AKU was impaired (5.2 vs 6.2 × 10, p < .001). Aortic distensibility was inversely related to age (r = -0.6, p = .0001). Hypertensive patients with alkaptonuria had impaired distensibility compared to normotensive patients with alkaptonuria (4.6 vs 5.6 × 10, p = .03), and hyperlipidemic patients with alkaptonuria had impaired distensibility compared to non-hyperlipidemic patients with alkaptonuria (4.1 vs 6.0 × 10, p = .001). Male hypertensive patients with alkaptonuria had greater distensibility than their female counterparts (5.3 vs 2.9 × 10, p = .02). Similarly, male hyperlipidemic patients with alkaptonuria had greater distensibility than their female counterparts (4.8 vs 2.5 × 10, p < .01). Of patients with alkaptonuria, those with a coronary artery calcium (CAC) score greater than 100 had more impaired distensibility than those with a CAC score less than 100 (3.5 vs 5.1 × 10, p = .01) and those with aortic calcium score greater than 100 had impaired distensibility compared to those with an aortic calcium score less than 100 (3.2 vs 4.9 × 10, p = .02). Univariate analysis revealed age, aortic calcification, and hyperlipidemia to be significant factors of distensibility, and multiple regression analysis showed age as the only significant risk factor of distensibility.
Patients with alkaptonuria have impaired aortic distensibility, which is likely an early marker for reduced cardiovascular health. Variables such as age, hypertension, hyperlipidemia, and aortic and coronary calcification were associated with impaired distensibility.
尿黑酸尿症（AKU）是一种罕见的酪氨酸代谢遗传疾病，导致同型半胱氨酸氧化产物在关节和心血管系统中积累。主动脉顺应性可能是心血管并发症的非侵入性指标。AKU 患者的降主动脉顺应性尚未被研究。
诊断为尿黑酸尿症的患者接受了磁共振成像（MRI）和门控非对比和对比增强心血管计算机断层扫描。使用 MRI 电影图像，确定降主动脉的主动脉顺应性。
76 例 AKU 患者进行了成像。与文献正常值相比，AKU 患者的主动脉顺应性受损（5.2 对 6.2×10，p<.001）。主动脉顺应性与年龄呈负相关（r=-0.6，p=0.0001）。与 AKU 非高血压患者相比，AKU 高血压患者的顺应性受损（4.6 对 5.6×10，p=0.03），与 AKU 非高血脂患者相比，AKU 高血脂患者的顺应性受损（4.1 对 6.0×10，p=0.001）。与 AKU 女性患者相比，AKU 男性高血压患者的顺应性更大（5.3 对 2.9×10，p=0.02）。同样，AKU 男性高血脂患者的顺应性大于女性患者（4.8 对 2.5×10，p<.01）。在 AKU 患者中，冠状动脉钙评分（CAC）大于 100 的患者比 CAC 评分小于 100 的患者的顺应性更差（3.5 对 5.1×10，p=0.01），而主动脉钙评分大于 100 的患者比主动脉钙评分小于 100 的患者的顺应性更差（3.2 对 4.9×10，p=0.02）。单因素分析显示年龄、主动脉钙化和高血脂是顺应性的显著因素，多元回归分析显示年龄是顺应性的唯一显著危险因素。
AKU 患者的主动脉顺应性受损，这可能是心血管健康状况下降的早期标志物。年龄、高血压、高血脂以及主动脉和冠状动脉钙化等变量与顺应性受损有关。
