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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 investigate the clinical features, diagnosis, treatment and prognosis of pyruvate kinase (PK) deficiency. Methods: The clinical data of 36 patients with PK deficiency were retrospectively analyzed. Results: Clinical manifestations: Twenty-three of 36 patients had varying degrees of anemia, 12 had yellowish skin and / or sclera, 18 had splenomegaly, 8 had hepatomegaly, and 13 had deepened urine. Laboratory tests: 8 cases of pancytopenia, 36 cases of patients with varying degrees of reduction of red blood cells, hemoglobin below normal 35 cases, 1 case of normal hemoglobin, 31 cases of reticulocyte percentage increased. Hemolytic examination: There was a lack of PK activity in all 36 patients, including 2 cases of hereditary spherocytosis, 1 case of pyrimidine 5 ’nucleotidease deficiency, 1 case of thalassemia, secondary to myelodysplastic syndrome 4 cases, secondary to aplastic anemia in 4 cases, secondary to bone marrow fibrosis in 1 case. Conclusion: The severity of PK deficiency is different, it is easy to be misdiagnosed and misdiagnosed in clinical practice, and there is no effective treatment at present. The treatment means need further study.