褐黄病性关节病一例报告

临床资料患者,男,55岁,因“左髋部疼痛2个月,加重伴左髋部活动受限1周”入院。患者2个月前无明显诱因出现左髋部疼痛,伴有腰背部僵硬,于当地医院拍X线片及CT(外院)显示:双侧髋关节炎伴左侧髋关节无菌性坏死,椎体周缘骨赘唇样增生、多节段椎间隙狭窄,椎间盘真空征,腰椎退变。当时予以口服止痛药物、卧床休息等保守治疗,2个月来未见明显好转,1周前左髋部疼痛伴左下肢活动受限加重,行走困难,为寻求进一步诊治,遂至我院。

A case report of ochronotic arthropathy

Ochronosis is a rare autosomal recessive genetic disease,accounting for 3-5 per million.Gene mutation of the 3q21-q23 base sequence results in the lack of 1,2-alkapton oxidase,which hinders the metabolism of phenylalanine and tyrosine in the body and further affects the decomposition of alkapton into acetoacetic acid.Alkapton is easy to accumulate in collagen-rich parts including sclera,ear cartilage,skin,etc.,which demonstrates black blue changes in the corresponding parts or dark brown urine after oxidation.Ochronotic arthropathy is a joint dysfunction caused by the distribution of alkapton in the articular cartilage,tendon and ligament.In this paper,the author will report a case admitted in June 2019.