Dysferlin蛋白缺陷的Miyoshi肌病的临床与病理学特点

Clinical and pathological features of Miyoshi myopathy with dysferlin protein deficient

目的探讨dysferlin蛋白缺陷的Miyoshi肌病(MM)的临床与病理学特点。方法对3例MM患者的临床及病理资料进行分析。结果3例患者均为青少年起病,临床主要表现均为下肢远端无力伴肌肉明显萎缩,其中1例发病初期伴有小腿肌肉疼痛肿胀,1例下肢近端肌肉无力;3例患者血清肌酸磷酸激酶均明显升高,分别为7543IU/L、5657IU/L、8721IU/L;2例乳酸脱氢酶升高,分别为465IU/L、636IU/L。3例肌肉病理均为肌源性损害,肌细胞膜dysferlin蛋白明显缺失,dystrophin表达正常;其中1例肌肉病理有炎细胞浸润。结论MM患者均为青少年起病,临床以下肢无力及肌萎缩为特点,病理可见肌细胞膜dysferlin蛋白缺失。

Objective To investigate the clinical and pathological features of Miyoshi myopathy （MM） with dysferlin protein deficient. Methods The clinical and pathological data of the 3 patients with MM were analysed. Results 3 patients were onset at youngster. The clinical manifestation were myastheria and myoatrophy in distal of lower limbs. 1 case combined myalgia and tumefaction in lower limbs at early stage of onset ; 1 case showed myathenia in proximal of lower limbs. The level of serum creatine phosphokinase （ CK ） was significantly ligher in the 3 cases （7543 IU/L, 5657 IU/L, 8721 IU/L respectively）. The level of serum lactic dehydrogenase （LDH） was significantly higher in the 2 cases （456 IU/L , 636 IU/L respectively）. The result of muscle pathology was showed myogenic damage in all the cases. The expression of dysferlin protain in membrane of muscle cells was completely deficient, although the expression of dystrophin was normal. Inflammatory cells infiltration was found in 1 case＇s muscle tissue. Conclusions The clinical characters of MM patient are onset at youngster, myasthenia and myoatrophy in lower limbs. The deficit of dysferlin protain can be found by pathology.