Bialer M G, Bruns D E, Kelly T E
Department of Pediatrics, University of Virginia, Charlottesville 22908.
Clin Chem. 1990 Mar;36(3):427-30.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked muscular dystrophy. Creatine kinase (CK) activity usually is increased in serum of affected males, but results for aldolase and lactate dehydrogenase (LD) in serum have been inconsistent, as have those for CK in carrier females. There have been few studies of CK-MB or LD isoenzyme-1 (LD-1) in EDMD. We measured CK, CK-MB, LD, LD-1, and aldolase activity in sera of 84 members of two large families with EDMD. DNA analysis had been carried out on all subjects. Although CK, LD, and aldolase activities were significantly increased in affected males, CK activity was the most consistently increased and was the least subject to artifactual increases. Mean CK-MB in serum was mildly increased, but LD-1 was within the normal reference interval, suggesting that CK-MB is increased in skeletal muscle in EDMD, as has been found in other forms of dystrophy. CK decreased with age in affected males. We saw no significant increases of muscle enzymes or isoenzymes in 33 EDMD carriers studied, of whom 19 were obligate carriers and 14 had been identified by DNA analysis.
埃默里-德赖富斯肌营养不良症（EDMD）是一种罕见的X连锁肌营养不良症。患该病的男性血清中肌酸激酶（CK）活性通常会升高，但血清中醛缩酶和乳酸脱氢酶（LD）的检测结果并不一致，携带者女性的CK检测结果也是如此。关于EDMD中CK-MB或LD同工酶-1（LD-1）的研究很少。我们检测了两个患有EDMD的大家族中84名成员血清中的CK、CK-MB、LD、LD-1和醛缩酶活性。对所有受试者都进行了DNA分析。虽然患该病的男性的CK、LD和醛缩酶活性显著升高，但CK活性升高最为一致，且受人为升高的影响最小。血清中CK-MB的平均值轻度升高，但LD-1在正常参考区间内，这表明EDMD患者骨骼肌中的CK-MB升高，其他形式的肌营养不良症也有这种情况。患该病的男性的CK随着年龄增长而下降。在研究的33名EDMD携带者中，我们未发现肌肉酶或同工酶有显著升高，其中19名是必然携带者，14名是通过DNA分析确定的携带者。
