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本病属常染色体隐性遗传性疾病,因缺乏尿黑酸氧化酶,体内尿黑酸不能转变为乙酰乙酸,而大量由尿中排出,在空气中氧化为棕色色素使尿变黑色,故称尿黑酸症。尿黑酸沉积于结缔组织,氧化为苯醌乙酸(?)后者聚合为黑色素并色素,使软骨、腱鞘、角膜、滑液膜及椎间盘等结缔组织变色,并进而引起骨关节炎,此阶段称为褐黄病。尿黑酸症——褐黄病为一罕见病,偶见于儿童,成人极为少见。现将门诊所见一例成人报告于下: 患者男性,43岁,已婚,皖霍邱县人,
The disease is autosomal recessive genetic disease, due to the lack of urine black acid oxidase, in vivo urine black acid can not be converted to acetoacetate, while a large number of excreted by the urine, the oxidation of brown pigment in the air so that urine becomes black, so called Black acidosis. Urine acid deposition in the connective tissue, the oxidation of benzoquinone acetic acid (?) The latter polymerization of melanin and pigments, cartilage, tendon sheath, cornea, synovial membrane and disc and other connective tissue discoloration, and thus cause osteoarthritis, this stage Known as brown yellow disease. Black acidosis - brown disease is a rare disease, occasionally in children, adults are extremely rare. Now see an example of outpatient adults reported the following: patients male, 43 years old, married Huayuqiu County,