CAJ | 학술논문

目的报道1例远端型小窝蛋白病患者,并研究其临床、病理及基因特点.方法患者为27岁女性,以双下肢非对称起病,逐渐累及近端肢带肌.收集并总结该患者临床资料,行双侧下肢MRI检查.对患者左侧胫前肌行活体组织病理检查.同时对患者及其父母行小窝蛋白-3(caveolin-3,CAV3)基因检测.结果患者双下肢MRI T1WI加权像增强结果提示远端肌群及近端肌群均存在异常信号影.骨骼肌病理检查发现光镜下呈中度肌营养不良样改变,免疫组织化学染色可见CAV3蛋白表达下降.患者存在CAV3基因c.136G＞ A(p.Ala46Thr)杂合突变,而该患者父母基因检测未见该突变.结论我们报道1例由CAV3基因c.136G＞ A(p.Ala46Thr)杂合突变引起的以下肢非对称起病合并近端肢带肌受累的远端型小窝蛋白病,为临床医生进一步认识该罕见疾病提供依据.
목적 보도1례원단형소와단백병환자,병연구기림상、병리급기인특점.방법 환자위27세녀성,이쌍하지비대칭기병,축점루급근단지대기.수집병총결해환자림상자료,행쌍측하지MRI검사.대환자좌측경전기행활체조직병리검사.동시대환자급기부모행소와단백-3(caveolin-3,CAV3)기인검측.결과 환자쌍하지MRI T1WI가권상증강결과제시원단기군급근단기군균존재이상신호영.골격기병리검사발현광경하정중도기영양불량양개변,면역조직화학염색가견CAV3단백표체하강.환자존재CAV3기인c.136G＞ A(p.Ala46Thr)잡합돌변,이해환자부모기인검측미견해돌변.결론 아문보도1례유CAV3기인c.136G＞ A(p.Ala46Thr)잡합돌변인기적이하지비대칭기병합병근단지대기수루적원단형소와단백병,위림상의생진일보인식해한견질병제공의거.
Objective To report the clinical,myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 (CAV3) deficiency.Methods The patient was a 27-year-old female.She had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdle muscles were involved subsequently.Clinical data of this patient were collected.The leg muscle magnetic resonance imaging (MRI) and an open biopsy of left tibialis anterior muscle were performed.In addition to histological,enzyme histochemical staining and ultrastructural examination,immunohistochemical staining with antibody against CAV3 was done.CAV3 gene was analyzed in the patient and her parents.Results Tl-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles.Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers.Gene analysis disclosed a heterozygous c.136G ＞ A (p.Ala46Thr)mutation in the CAV3 gene,and the patient's parents did not have this mutation.Conclusions We report a distal myopathy case caused by c.136G ＞ A (p.Ala46Thr) mutation in the CAV3 gene,who had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdal muscles were also involved.This would help clinical doctors to know more about this rare myopathy.