丙酮酸激酶缺乏症36例临床资料分析

Clinical data analysis of 36 cases of pyruvate kinase deficiency

目的:探讨丙酮酸激酶(PK)缺乏症的临床特点、诊断、治疗及预后。方法:回顾性分析36例PK缺乏症患者的临床资料。结果:临床表现:36例患者中23例有不同程度的贫血貌,12例有皮肤和(或)巩膜黄染,脾大18例,肝大8例,尿色加深13例。实验室检查:全血细胞减少8例,36例患者红细胞均有不同程度的减少,血红蛋白低于正常值35例,血红蛋白正常1例,31例网织红细胞百分比增加。溶血检查:36例患者均存在PK活性缺乏,其中2例合并遗传性球形红细胞增多症,合并嘧啶5'核苷酸酶缺乏症1例,合并地中海贫血1例,继发于骨髓增生异常综合征4例,继发于再生障碍性贫血4例,继发于骨髓纤维化1例。结论:PK缺乏症病情严重程度不一,临床容易误诊、漏诊,目前无有效治疗手段,其治疗手段尚需进一步研究。

Objective： To explore the clinical feature, diagnosis, treatment and prognosis of pyruvate kinase （PK） deficiency. Method： Clinical data of 36 cases of PK deficiency patients were retrospectively analyzed. Result.. Among the 36 patients with PK deficiency, 23 cases had anemia, 12 cases had icteric skin and/or slera,and 18 cases had splenomegaly,8 cases had hepatomegaly and urine color deepened in 13 cases. As to the laboratory findings, 8 cases showed pancytopenia, hemoglobin levels were lower in 35 cases, the percentage of reticulocytes increased in 31 cases,all the patients showed PK deficiency. Two cases had hereditary spherocytosis, 1 case had pyrimidine-5＇- nucleotide enzyme deficiency, 1 case had thalassemia, 4 cases had myelodysplastic syndromes,4 cases had aplastic anemia and 1 case had myelofibrosis. Conclusion：PK deficiency is heterogenous and it can be misdiagnosed. There is no effective treatment so far.