Introduction

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.

Methods

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.

Results

Seventy-six patients with alkaptonuria were imaged. When compared to literature normal values, aortic distensibility in AKU was impaired (5.2 vs 6.2 × 10⁻³, 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 × 10⁻³, p = .03), and hyperlipidemic patients with alkaptonuria had impaired distensibility compared to non-hyperlipidemic patients with alkaptonuria (4.1 vs 6.0 × 10⁻³, p = .001). Male hypertensive patients with alkaptonuria had greater distensibility than their female counterparts (5.3 vs 2.9 × 10⁻³, p = .02). Similarly, male hyperlipidemic patients with alkaptonuria had greater distensibility than their female counterparts (4.8 vs 2.5 × 10⁻³, 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 × 10⁻³, 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 × 10⁻³, 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.

Conclusions

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.

中文翻译：

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alkaptonuria的主动脉扩张性。

介绍

碱性磷酸酶（AKU）是一种罕见的酪氨酸代谢遗传病，导致高尿酸氧化产物在关节和心血管系统中积聚。主动脉扩张性可能是心血管并发症的非侵入性指标。尚未研究降血脂性尿道胸主动脉扩张性下降。

方法

确诊为酒精性尿毒症的患者接受了磁共振成像（MRI），并进行了门控非对比和对比增强的心血管X线断层扫描。使用MRI电影图像，确定降主动脉的主动脉扩张性。

结果

对76例alkaptonuria患者进行了成像。与文献正常值相比，AKU的主动脉扩张性受到损害（5.2 vs 6.2×10 ^-3，p  <.001）。主动脉扩张性与年龄成反比（r  = -0.6，p  = .0001）。与血压正常的alkaptonuria患者相比，高血压的alkaptonuria患者的可扩张性受损（4.6 vs 5.6×10 ^-3，p  = .03），与非高脂血症的alkaptonuria患者相比，高脂血症的alkaptonuria患者的扩张性受损（4.1 vs 6.0×10 ^-3，p = .001）。男性高血压伴有蛋白尿的患者比女性伴有更大的扩张性（5.3 vs 2.9×10 ^-3，p  = .02）。同样，男性高血脂症患者伴有alkaptonuria的扩张性比女性高（4.8 vs 2.5×10 ^-3，p  <.01）。在患有链球蛋白尿症的患者中，冠状动脉钙化（CAC）得分大于100的患者的可扩张性受损程度比CAC得分小于100的患者（3.5 vs 5.1×10 ^-3，p  = .01）与主动脉钙分数小于100的患者相比，分数大于100的患者扩张性受损（3.2 vs 4.9×10 ^-3，p  = .02）。单因素分析显示年龄，主动脉钙化和高脂血症是可扩张性的重要因素，多元回归分析显示，年龄是唯一可扩张性的重要危险因素。

结论

alkaptonuria患者的主动脉扩张性受损，这很可能是降低心血管健康状况的早期标志。年龄，高血压，高脂血症，主动脉和冠状动脉钙化等变量与扩张性受损有关。