论文部分内容阅读
尿黑酸症是一种罕见的先天性良性氨基酸代谢障碍,是常染色体隐性遗传性疾病,有家族倾向,父母属近亲血缘者其子女的发病率高,男>女(2:1),其特征为尿中排出大量的尿黑酸致尿液呈黑色。病例报告沈××,男,47岁,售货员。主诊:持续性腰椎及膝关节疼痛伴排尿变黑3年多。现在史:缘患者于1976年曾因双肾区间歇性疼痛经检查发现镜下血尿(红血球+++),当时无尿路刺激征。同年开始感腰椎及肩膝关节持续性疼痛,阵发性加剧,严重时影响活动,按关节炎治疗无显效,后于腰椎照片时疑为“黑尿病”,
Black acidosis is a rare congenital benign amino acid metabolism disorder is an autosomal recessive genetic disease, a family tendency, the parents of kinsmen and their children have a high incidence of male> female (2: 1), It is characterized by a large amount of urinary black acid excretion in the urine caused by black urine. Case report Shen × ×, male, 47 years old, salesman. Visits: persistent lumbar and knee pain with urination black more than 3 years. Now history: margin patients in 1976 had double glaucoma due to intermittent pain examination revealed hematuria (erythrocyte +++), there was no urinary tract irritation. The same year, began to feel lumbar and shoulder pain in the knee, paroxysmal aggravate the impact of activity, according to the arthritis treatment was ineffective, after the photo in the lumbar spine as “black urine disease”