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黑酸尿症属于常染色体隐性遗传病,临床少见,现将我院遇到的1例报道如下: 患者,女,9岁,于1988年9月来本院计划生育门诊。患者于1周岁左右偶见尿布间歇性着黑色,后发现有间断黑色小便排出,在活动及疲劳时尤为明显,无其他不适,未引起重视。7岁左右加重到某市医院诊治,一直按“阵发性睡眠性血红蛋白尿”(PNH)给予治疗,未见疗效。家族史:父母身体健康,非近亲婚配,直系亲属中无遗传性疾病史。体检无异常发现。血常规:Hb 125g/L,WBC 6.1×10~9/L、N 52%、
Black aciduria is autosomal recessive genetic disease, clinical rare, now a hospital encountered in our report are as follows: Patients, female, 9 years old, in September 1988 to our hospital family planning clinic. Occasionally, the diaper intermittently appeared black at about 1 year old. After intermittent black urine was found, there was intermittent black urine discharge, which was especially noticeable during activities and fatigue without any other discomfort. About 7 years old to a city hospital treatment, has been “paroxysmal nocturnal hemoglobinuria ” (PNH) given treatment, no effect. Family history: Parents healthy, non-relatives marriage, immediate family history of no genetic disease. No abnormal physical examination found. Blood: Hb 125g / L, WBC 6.1 × 10 ~ 9 / L, N 52%