CAJ | 학술논문

目的总结Ⅵ型胶原蛋白相关肌病的临床表现、辅助检查结果和基因诊断,更好地识别和诊断这类少见遗传性肌病.方法对7例基因确诊的家族型或散发型Ⅵ型胶原蛋白相关肌病患者进行回顾性临床研究,总结其症状体征、肌酶谱、肌电图、肌肉MRI、肌肉活体组织检查(简称活检)病理以及基因型与表现型相关性等方面特点.结果 7例患者中以COL6A1、COL6A2、COL6A3为致病基因的分别为3例、1例和3例.2例为家族型,5例为散发型.下肢为重的肢体近端无力、关节挛缩为主要临床表现.血肌酸激酶轻微升高.肌电图提示轻度肌源性损害.大腿肌肉MRI示特征性分布肌群受累.肌肉活检病理可见肌营养不良样改变,多数肌纤维结构清楚,肌纤维间胶原结缔组织增生.结论对于渐进性肌肉无力伴早发关节挛缩,肌酸激酶轻度升高,下肢肌肉MRI呈选择性受累的患者,应注意Ⅵ型胶原蛋白相关肌病可能.临床工作中注意识别Ⅵ型胶原蛋白相关肌病临床特点,对疑诊患者进行高通量测序基因诊断,有助于提高诊断率.
목적 총결Ⅵ형효원단백상관기병적림상표현、보조검사결과화기인진단,경호지식별화진단저류소견유전성기병.방법 대7례기인학진적가족형혹산발형Ⅵ형효원단백상관기병환자진행회고성림상연구,총결기증상체정、기매보、기전도、기육MRI、기육활체조직검사(간칭활검)병리이급기인형여표현형상관성등방면특점.결과 7례환자중이COL6A1、COL6A2、COL6A3위치병기인적분별위3례、1례화3례.2례위가족형,5례위산발형.하지위중적지체근단무력、관절련축위주요림상표현.혈기산격매경미승고.기전도제시경도기원성손해.대퇴기육MRI시특정성분포기군수루.기육활검병리가견기영양불량양개변,다수기섬유결구청초,기섬유간효원결체조직증생.결론 대우점진성기육무력반조발관절련축,기산격매경도승고,하지기육MRI정선택성수루적환자,응주의Ⅵ형효원단백상관기병가능.림상공작중주의식별Ⅵ형효원단백상관기병림상특점,대의진환자진행고통량측서기인진단,유조우제고진단솔.
Objective To summarize the clinical presentations, the findings of lab tests and procedures and the genetic investigation of collagen type Ⅵ related myopathy, and to help clinicians recognize and diagnose this rare disease.Methods Seven familiar or spontaneous collagen type Ⅵ related myopathy patients diagnosed by gene detection were analyzed.We emphasized on the features of clinical manifestations, serum creatine kinase level, electromyography, lower-limb muscle MRI, muscle biopsy and correlation between genotype and pZenotype.Results Among 7 patients, 3 were caused by COL6A1 mutation, 1 was caused by COL6A2 mutation and 3 were caused by COL6A3 mutation.Two patients were familiar wZile 5 were spontaneous.HigZligZted clinical presentations were proximal weakness in lower limbs and joint contrature.Serum creatine kinase level was sligZtly elevated.ElectromyograpZy sZowed sligZt myogenic damage.Muscle MRI of tZigZ sZowed distinct pattern of muscle involvement.Muscle patZology revealed dystropZic myogenic cZanges with proliferation of connective tissue between muscle fibers.Conclusions Neurologists should recognize the features of collagen type Ⅵ related myopathy, such as progressive weakness, early-onset joint contraetures, slightly elevated serum creatine kinase and selective muscle involvement on leg MRI scan, and then perform next-generation sequencing based genetic test on suspected patients.This approach would improve the diagnostic rate of the disease.