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目的探讨确诊为PMP22大片段重复突变腓骨肌萎缩症(CMT)患者的临床特点。方法在近年来所搜集的65个CMT家系中,用实时荧光定量PCR确诊出18个PMP22大片段重复突变的家系,对这些家系的临床特点进行回顾性分析。结果18个被确诊为PMP22大片段重复突变CMT家系患者中,发病年龄10～56岁,平均年龄16.6岁,病程3～26年,平均14.1年,首发症状为双下肢肌肉萎缩伴乏力者最为常见,占88.9%,所有患者均存在不同程度的双下肢萎缩,双上肢无力伴萎缩9例,占50%,跨阈步态8例,占44.4%,弓形足畸形10例,占55.6%,双下肢感觉减退7例,占38.9%,双上肢感觉障碍3例,占16.7%,颅神经损害罕见;肌电图检查15例出现纤颤电位,16例出现运动单位时限延长,神经传导速度(NCV)检查:15例NCV速度减慢,平均正中神经传导速度为(25.68±7.6)m/s;病理检查显示15例神经纤维间结缔组织增生,有髓纤维数目减少,14例患者可见洋葱球样改变。结论本病临床特点与国外文献报道非常相似,大多于青少年期起病,均以肢体远端无力与萎缩,骨骼畸形为主要表现,感觉障碍较国外患者常见;电生理改变以纤颤电位和运动单位时限延长为主,病理改变以神经纤维结缔组织增生、有髓纤维数目减少和洋葱球样改变多见。
Objective To investigate the clinical features of patients with repeated mutations of Charcot-Marie-Tooth Syndrome (CMT) diagnosed as large PMP22 fragments. Methods In 65 CMT families collected in recent years, 18 pedigrees with repeat mutations in PMP22 were confirmed by real-time fluorescence quantitative PCR. The clinical features of these families were analyzed retrospectively. Results 18 patients were diagnosed as PMP22 large repeat mutations in CMT family of patients, the age of onset of 10 to 56 years, mean age 16.6 years, duration of 3 to 26 years, an average of 14.1 years, the first symptom of the lower extremity muscular atrophy with fatigue most common , Accounting for 88.9%. All patients had varying degrees of lower extremity atrophy, weakness and atrophy of upper extremities in 9 cases, accounting for 50%, cross-threshold gait in 8 cases, accounting for 44.4%, archfoot deformity in 10 cases, accounting for 55.6% Lower extremity sensation decreased in 7 cases (38.9%), upper extremity sensory disturbance in 3 cases (16.7%), rare cranial nerve damage; fibrillation potential in 15 patients with electromyogram, prolonged movement unit time in 16 patients, nerve conduction velocity (NCV ) Examination: 15 cases of NCV slowed down, the average median nerve conduction velocity (25.68 ± 7.6) m / s; pathological examination showed that 15 cases of connective tissue proliferation between nerve fibers, reduced the number of medullated fibers, 14 cases of onion ball-like change. Conclusion The clinical features of this disease are very similar to those reported in foreign literature, mostly in adolescence. Most of them are characterized by weakness and atrophy of the distal limbs and skeletal deformity. Sensory disturbances are common in patients with foreign bodies. Electrophysiological changes are mainly based on fibrillation potential and exercise Unit time-based extension of pathological changes to nerve fiber connective tissue hyperplasia, reduce the number of medullated fibers and onion ball-like changes more common.