Shah Anand, Son Andrew, Salehi Payam
Department of Surgery, Tufts Medical Center, Boston, MA, USA.
SAGE Open Med Case Rep. 2020 Apr 2;8:2050313X20915411. doi: 10.1177/2050313X20915411. eCollection 2020.
Alkaptonuria is a rare autosomal-recessive metabolic disorder of tyrosine degradation which results in elevated levels of circulating homogentisic acid. Ochronosis occurs when homogentisic acid polymerizes and deposits in connective tissue. Ochronotic lesions in the carotid arteries have not been described. In this report, we describe a 65-year-old man with alkaptonuria, with hypertension and hyperlipidemia, who underwent an uneventful carotid endarterectomy for an asymptomatic high-grade internal carotid artery stenosis. Histology revealed homogentisic acid deposits as black-brownish areas in the intima. He was noted to have an impressive heavily brown-black pigmented discoloration of the carotid plaque. Cardiovascular involvement is a rare consequence of alkaptonuria and is manifested by pigment deposition at the areas influenced by shear stress and turbulence.
黑尿症是一种罕见的常染色体隐性酪氨酸降解代谢紊乱疾病，会导致循环中的尿黑酸水平升高。当尿黑酸聚合并沉积在结缔组织中时，就会发生褐黄病。尚未有关于颈动脉褐黄病变的描述。在本报告中，我们描述了一名65岁患有黑尿症、高血压和高脂血症的男性，他因无症状的重度颈内动脉狭窄接受了顺利的颈动脉内膜切除术。组织学检查显示尿黑酸沉积物在内膜呈黑褐色区域。他的颈动脉斑块有明显的深棕黑色色素沉着。心血管受累是黑尿症罕见的后果，表现为色素沉积在受剪切应力和湍流影响的区域。
