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自从1961年 Valentine等发现丙酮酶激酶(PK)可以引起反复发作的慢性溶血,国内已有少数病例报道。现报道一例PK缺乏症常规PK活性测定正常,而低底物活性测定时有异常表现。现报道如下。 病史摘要 陈某,男,5.5岁。凤阳县籍。面黄4年余,近2年需多次输血治疗。家族史无特殊。父母非近亲婚配。神清,重度贫血貌,轻度黄疽。心肺(一),肝助下5cm,质中,脾肋下平脐,质中偏硬。实验室检查:TB:40.0umol/L,DB10.2umol/L血常规:WBC 5.0×10~9/L,N 0.4,L:0
Since Valentine et al found that pyruvate kinase (PK) can cause recurrent chronic hemolysis in 1961, few cases have been reported in China. Is reported in a case of PK deficiency conventional PK activity was normal, and low substrate activity measured abnormalities. Report as follows now. Summary of medical history Chen, male, 5.5 years old. Fengyang County membership. Face yellow more than 4 years, nearly 2 years need multiple transfusions. No special family history. Parents non-relatives marriage. Clear, severe anemia, mild jaundice. Cardiopulmonary (a), liver help 5cm, the quality of the spleen ribs flat navel, the quality of partial hard. Laboratory tests: TB: 40.0umol / L, DB10.2umol / L Blood: WBC 5.0 × 10 ~ 9 / L, N 0.4, L: 0