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包涵体肌病伴Paget骨病和额颞叶痴呆(IBMPFD)是缬酪肽结合蛋白(VCP)基因突变引起的常染色体显性遗传累及多系统的少见疾病,主要累及肌肉、骨骼和中枢神经系统。患病率不清楚,目前已有超过40个家族的病例报道。肌病是IBMPFD最常见的表现,发病年龄在30～50岁之间。90%患者在45岁出现明显肌无力,肌肉受累范围较广泛,变异较大。肌肉病理表现为包涵体肌病特点。51%病人出现骨病,与肌病出现年龄相似。中枢神经系统主要表现为额颞叶痴呆,出现年龄平均54岁。病理特点为神经元胞核内泛素和交换反应脱氧核糖核酸结合蛋白(TDP-43)阳性包涵体。IBMPFD临床的误诊率很高。
Inclusion body myopathy with Paget’s disease and frontotemporal dementia (IBMPFD) are rare, autosomal dominant and multisystem diseases caused by mutations in the valproate-binding protein (VCP) gene and mainly involve the muscles, bones and central nervous system . The prevalence is unclear and there are currently more than 40 family case reports. Myopathy is the most common manifestation of IBMPFD, the age of onset in 30 to 50 years old. 90% of patients at 45 years of significant muscle weakness, muscle involvement is more extensive, large variation. Muscle pathology showed the characteristics of inclusion body myopathy. 51% of patients with bone disease, and myopathy appear similar age. The main manifestations of the central nervous system is frontotemporal dementia, with an average age of 54 years. Pathological features of neurons in the nucleus of ubiquitin and exchange reaction deoxyribonucleic acid binding protein (TDP-43) positive inclusion bodies. IBMPFD clinical misdiagnosis rate is high.