意大利肢带型肌营养不良症登记处：相对发病率、临床特征及鉴别诊断
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
作者信息
Magri Francesca, Nigro Vincenzo, Angelini Corrado, Mongini Tiziana, Mora Marina, Moroni Isabella, Toscano Antonio, D'angelo Maria Grazia, Tomelleri Giuliano, Siciliano Gabriele, Ricci Giulia, Bruno Claudio, Corti Stefania, Musumeci Olimpia, Tasca Giorgio, Ricci Enzo, Monforte Mauro, Sciacco Monica, Fiorillo Chiara, Gandossini Sandra, Minetti Carlo, Morandi Lucia, Savarese Marco, Fruscio Giuseppina Di, Semplicini Claudio, Pegoraro Elena, Govoni Alessandra, Brusa Roberta, Del Bo Roberto, Ronchi Dario, Moggio Maurizio, Bresolin Nereo, Comi Giacomo Pietro
机构信息
Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.
Department of General Pathology, University of Naples, Naples, Italy.
出版信息
Muscle Nerve. 2017 Jan;55(1):55-68. doi: 10.1002/mus.25192. Epub 2016 Oct 28.
INTRODUCTION
Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular definition is fundamental for prognostic and therapeutic purposes.
METHODS
We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective and prospective data and compared each LGMD subtype for differential diagnosis purposes.
RESULTS
LGMD types 2A and 2B are the most frequent forms in Italy. The ages at disease onset, clinical progression, and cardiac and respiratory involvement can vary greatly between each LGMD subtype. In a set of extensively studied patients, targeted next-generation sequencing (NGS) identified mutations in 36.5% of cases.
CONCLUSION
Detailed clinical characterization combined with muscle tissue analysis is fundamental to guide differential diagnosis and to address molecular tests. NGS is useful for diagnosing forms without specific biomarkers, although, at least in our study cohort, several LGMD disease mechanisms remain to be identified. Muscle Nerve 55: 55-68, 2017.
引言
肢带型肌营养不良症（LGMDs）具有高分子异质性、临床症状重叠以及缺乏特异性生物标志物的特点。其分子定义对于预后和治疗目的至关重要。
方法
我们创建了一个意大利LGMD登记库，纳入了370例经分子诊断的患者。我们回顾了详细的回顾性和前瞻性数据，并为鉴别诊断目的比较了每种LGMD亚型。
结果
2A型和2B型LGMD是意大利最常见的类型。每种LGMD亚型之间的发病年龄、临床进展以及心脏和呼吸受累情况可能有很大差异。在一组经过广泛研究的患者中，靶向二代测序（NGS）在36.5%的病例中发现了突变。
结论
详细的临床特征描述与肌肉组织分析相结合对于指导鉴别诊断和进行分子检测至关重要。NGS有助于诊断没有特异性生物标志物的类型，尽管至少在我们的研究队列中，仍有几种LGMD的发病机制有待确定。《肌肉与神经》55: 55 - 68, 2017年。
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