骨髓增生异常综合征获得性红细胞酶病的研究

按国际血液学标准委员会推荐的酶活性测定方法检测２３例骨髓增生异常综合征（ＭＤＳ）包括难治性贫血（ＲＡ）１２例、环状铁粒幼细胞性难治性贫血（ＲＡＳ）１例、原始细胞过多性难治性贫血（ＲＡＥＢ）３例、慢性粒－单核细胞性白血病（ＣＭＭＬ）３例和转化中的原始细胞过多性难治性贫血（ＲＡＥ－ｔ）４例的红细胞酶活性：丙铜酸激酶（ＰＫ）、醛缩酶（ＡＬＤ）、嘌呤核苷磷酸化酶（ＰＮＰ）和腺苷脱氨酶（ＡＤＡ），其均值与正常对照比较。ＰＫ活性明显降低（７．８０±５．２０ＥＵ／ｇＨｂ对１２．６６±２．７７ＥＵ／Ｈｂ，Ｐ＜０．００１），ＡＬＤ活性升高（３．２９±１．４１ＥＵ／ｇＨｂ对２．３９±０．８０ＥＵ／ｇＨｂ，Ｐ＜０．０１），ＰＮＰ活性降低（４１．８９±２５．０３ＥＵ／ｇＨｂ对７４．３７±２３．７８ＥＵ／ｇＨｂ，Ｐ＜０．００１），ＡＤＡ活性升高（４．４３±６．０８ＥＵ／ｇＨｂ对０．９９±０．３８ＥＵ／ｇＨｂ，Ｐ＜０．０５）。患者４种红细胞酶活性与血红蛋白浓度间无相关性。结果表明：ＭＤＳ患者普遍存在获得性红细胞酶病，不仅在红细胞糖酵解途径的酶，也包括核苷酸代谢途径的酶的异常。凡有获得性酶异常的ＭＤＳ患者均未发现有显性溶血表现。

STUDY ON ACQUIRED ERYTHROCYTE ENZYMOPATHY IN MYELODYSPLASTIC SYNDROMES

Using the methods recommended by ICSH,the determinations of erythrocyte pyruvate kinase(PK),aldolase(ALD),purine nucleoside phosphorylase (PNP) and adenosine deaminase(ADA) activities were carried out among 23 patients with myelodysplastic syndromes(MDS),including 12 cases of RA,one case of EAS,3cases of RAEB,3cases of CMML and 4 cases of RAEB-T. Compared with the mean activity in normal controls,the PK activity was significantly decreased in patients with MDS (7.80+5.20EU/g Hb vs 12.66+2.70EU/g Hb,P<0.001),the ALD activity was increased (3.29+1.41EU/g Hb vs 2.39 +0.80EU/g Hb,P<0.01),the PNP activity was decreased (41.89+25.03EU/g Hbvs 74.37+23.78EU/gHb,P<0.001),and the ADA activity was increased in patients with MDS (4.43+6.08EU/g Hb vs 0.99+0.38EU/g Hb,P<0.05).No statistical correlation was found between abnormal erythrocyte enzyme and concentration of hemoglobin in MDS cases.Our study showed that the acquired erythrocyte enzymopathies occurred more frequently in patients with MDS,not only involving in the enzymes of glycolytic metabolism but also in that of nucleotide metabolism.In our study, no patients with acquired enzyme anomalies presented signs of hemolysis.