Kenny D, Ptacin M J, Bamrah V S, Almagro U
Cardiology Section, Milwaukee VA Medical Center, Wisc.
Cardiology. 1990;77(6):477-83. doi: 10.1159/000174641.
Ochronosis is a rare disorder of tyrosine metabolism due to a deficiency of the enzyme homogentisic acid oxidase. The most common clinical manifestations include alkaptonuria, spondyloarthropathy, large joint arthritides and pigmentation of cartilage. Cardiac involvement may occur due to the deposition of polymerized homogentisic acid in the aortic, mitral and pulmonic valves. Usually, this leads to increasing rigidity and calcification. The only functionally significant valve lesion reported appears to be aortic stenosis. A possible link between ochronosis and coronary artery disease has been postulated. Further, a link between peripheral vascular disease and ochronosis may be present. We describe a case of ochronotic cardiovascular disease and review the literature on the subject.
褐黄病是一种由于尿黑酸氧化酶缺乏导致的罕见的酪氨酸代谢紊乱疾病。最常见的临床表现包括尿黑酸尿症、脊椎关节病、大关节关节炎和软骨色素沉着。由于聚合的尿黑酸沉积在主动脉瓣、二尖瓣和肺动脉瓣，可能会发生心脏受累。通常，这会导致硬度增加和钙化。报道的唯一具有功能意义的瓣膜病变似乎是主动脉狭窄。有人推测褐黄病与冠状动脉疾病之间可能存在联系。此外，外周血管疾病和褐黄病之间可能存在联系。我们描述了一例褐黄病性心血管疾病病例，并回顾了该主题的文献。
