脂质沉积性肌病42例临床治疗和预后随访

Therapeutic effects and long term follow-ups in 42 cases of lipid storage myopathy

目的探讨脂质沉积性肌病(LSM)的临床特点、药物治疗效果和预后情况。方法同顾性分析42例 LSM 患者临床资料并对其治疗效果和预后情况进行随访。结果全部患者均有治疗期间的短期随访资料,其中小剂量泼尼松治疗33例,单用核黄素(维生素 B_2)治疗9例,全部患者1个月内肌无力症状均获明显改善。随访1年以上者共32例,其中26例肌力完全恢复正常,另6例仍不能耐受重体力劳动,运动耐力较健康人筹。13例患者症状有不同程度复发,其中7例有家族史,复发的13例中有12例是在冬季复发,均以劳累、感冒为诱因,5例患者复发2次以上。结论 LSM 是可治疗的肌肉疾病,对小剂量泼尼松治疗有效,部分患者有复发倾向,有家族史患者更容易复发。单用核黄素治疗反应良好的 LSM 可能为戊二酸尿症Ⅱ型所致,提示应根据 LSM 的不同病因采取不同的治疗方案。

Objective To clarify the clinical features, therapeutic strategy and prognosis of lipid storage myopathy （LSM）, Methods The clinical data and therapeutic effects of 42 LSM patients were summarized retrospectively. All patients were followed up to evaluate their prognosis, Results Data of short-term therapeutic results of all the 42 patients were available, Thirty-three cases were placed in low- doses prednisone and 9 cases in riboflavin. All patients showed marked and quick improvement of symptoms within one month. Among thirty-two patients followed up for more than one year, 26 cases had a full recovery and 6 remained to have intolerance to heavy exercise. Thirteen patients had relapses of muscle weakness in various degrees and most of which were induced by exertion, exposure to coldness and upper respiratory tract infection, In 5 patients the symptoms were recurred for more than one time, Among 13 cases with relapses, 7 had family history, Conclusions Our data suggest that LSM is a treatable disease and well responsive to low-doses prednisone. The disease tends to recur, especially in patients with family history. Glutaric aciduria type lI should be considered in LSM patients who are responsive well to riboflavin, indicating drug therapeutic strategy for LSM should be based on the etiology of the disease,