核纤层蛋白病一例并文献复习

目的 探讨核纤层蛋白病的诊断及治疗方法,提高对核纤层蛋白病的认识.方法 结合1例核纤层蛋白病患者的临床资料和文献复习,详细分析该病的组织起源、临床病理特点、分型、诊断、罄别诊断、治疗及预后等,完善患者各系统筛查以评估皮肤、骨骼、骨骼肌、心肌、神经和脂肪组织的受累情况.结果 各系统筛查结果提示患者多组织(皮肤、骨骼、骨骼肌、脂肪、神经)发育不良/加速退行性变伴左卵巢良性浆液性囊腺瘤.其临床表现复杂,重叠了Charcot-Marie-Tooth病、Emery-Dreffuss肌营养不良、Dunnigan型家族性部分性脂肪萎缩、脂肪萎缩性糖尿病并下颌骨肢端发育不良症、非典型Werner综合征的表现,临床诊断为(新型)核纤层蛋白病.结论 核纤层蛋白病罕见,极易误诊,应予基因筛查以明确其分子病因.

Literature review on laminopathy and case report of a novel laminopathy

Objective To identify the clinical spectrum and the clinical diagnostic criteria of laminopathy. Methods We here reported a novel laminopathy case. Based on the clinical features of the case and overall review on the related literatures, we aimed to identify the clinical characteristics including involved tissue origination, clinical diagnosis, differentiation diagnosis, treatment and prognosis of laminopathy. Multiple systems including skin, skeleton, skeletal muscle, cardiac muscle, nerve and adipose tissue were estimated by laboratory investigations. Results The case manifested as the prominent progeroid disorders, multiple system (skin, skeleton, skeletal muscle, fat and nerve) degeneration and early-onset cystadenoma of the ovary. The case's presentation could be classified as a novel laminopathy which manifested as an overlapping phenotype among Charcot-Marie-Tooth disease, limb-girdle muscle dystrophy,Dunnigan-type familial partial lipodystrophy, mandibuloaral dysplasia, and atypical Werner syndrome.Conclusions Laminopathy is a rare disease which manifested as a wide clinical spectrum. Based on the clinical diagnosis, further study on candidate gene screening will help to elucidate the molecular mechanism.