CAJ | 학술논문

目的探讨线粒体病的临床、病理特点及发病机制. 方法分析自2005年6月至2012年12月河北医科大学第三医院神经肌肉病科收治的29例线粒体病患者的临床资料,采用骨骼肌活检观察其病理特点,透射电镜观察其超微结构变化. 结果 (1)线粒体病临床主要表现为运动不耐受、肌无力、肌萎缩、外眼肌麻痹等骨骼肌受累症状以及智能障碍、精神障碍、癫痫、脑卒中等脑受累症状;血清肌酸激酶正常或轻度增高;血乳酸水平多增高;肌电图表现无特异性,可表现为正常、肌源性或神经源性损害;可伴脑电图异常;头部MRI常见表现为脑萎缩、脑白质变性和不符合血管分布的卒中样改变.(2)骨骼肌病理:不同程度的破碎红纤维(RRF)散在分布;细胞色素C氧化酶(COX)活性减低或者缺失;琥珀酸脱氢酶(SDH)染色肌间小血管可见血管壁强染(SSV)现象.(3)透射电镜观察显示线粒体结构数量异常. 结论 (1)线粒体病临床表现复杂多样,但多有骨骼肌和(或)脑受累症状.(2)RRF或SSV现象是线粒体病的主要病理表现.(3)骨骼肌活检病理分析是诊断本病的重要方法.临床诊断、分型诊断对基因分析具有提示作用.
목적 탐토선립체병적림상、병리특점급발병궤제. 방법 분석자2005년6월지2012년12월하북의과대학제삼의원신경기육병과수치적29례선립체병환자적림상자료,채용골격기활검관찰기병리특점,투사전경관찰기초미결구변화. 결과 (1)선립체병림상주요표현위운동불내수、기무력、기위축、외안기마비등골격기수루증상이급지능장애、정신장애、전간、뇌졸중등뇌수루증상;혈청기산격매정상혹경도증고;혈유산수평다증고;기전도표현무특이성,가표현위정상、기원성혹신경원성손해;가반뇌전도이상;두부MRI상견표현위뇌위축、뇌백질변성화불부합혈관분포적졸중양개변.(2)골격기병리:불동정도적파쇄홍섬유(RRF)산재분포;세포색소C양화매(COX)활성감저혹자결실;호박산탈경매(SDH)염색기간소혈관가견혈관벽강염(SSV)현상.(3)투사전경관찰현시선립체결구수량이상. 결론 (1)선립체병림상표현복잡다양,단다유골격기화(혹)뇌수루증상.(2)RRF혹SSV현상시선립체병적주요병리표현.(3)골격기활검병리분석시진단본병적중요방법.림상진단、분형진단대기인분석구유제시작용.
Objective To study the clinical and pathological features and pathogenesis of mitochondrial disorders (MIDs).Methods The clinical,laboratory,pathological and ultrastructure characteristics of 29 patients with MIDs,admitted to our hospital from 2005 to 2012,were analyzed.Results Main clinical manifestations of MIDs were exercise intolerance,amyosthenia,amyotrophy,external ophthalmoplegia and disturbance of intelligence,psychonosema,epilepsy and cerebral apoplexy;serum creatine kinase (CK) levels were normal or high; lactic acid levels were increased in many patients;myogenic or neurogenic changes/normals were showed by electromyograph examinations; part of them were with EEG abnormalities; MRI showed that encephalatrophy,myelinopathy and multifocal lesions not conforming to the distribution of major arteries existed.In muscle biopsy,plenty of ragged red fibers (RRF) scattered; the activity of cytochrome coxidase (COX) was decreased or absent in some fibers; in the succinodehydrogenase (SDH) stained small vessels,strong SDH-reactive blood vessels (SSV) was observed.Transmission electromicroscope analysis revealed that disordered mitochondria were markedly increased.Conclusions The clinical manifestations of MIDs are some diseases with multisystem disorders and their main symptoms include muscle and brain changes.Plenty of RRF scatter or SSV phenomenon is the main pathology.Skeletal muscle biopsy and pathological analysis are trustworthy methods for the definite diagnosis of MIDs; clinical manifestations often provide clews for typing and gene analysis.