Neurological Findings in Anderson-Fabry Disease

A. Nicoletti, S. Sestito, F. Falvo, I. Mascaro, M. Moricca, V. Salpietro, A. Polizzi, M. Ruggieri, Mercuri Francesco Bruno, D. Concolino
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Abstract

Abstract Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene on chromosome Xq22, resulting in α-galactosidase A enzyme deficiency. It is characterized by progressive accumulation of lipids (e.g., globotriaosylceramide) in the lysosomes of a variety of cell types, including neural cells. Neurological manifestations, other than cerebrovascular accidents, include small fiber neuropathy and dysautonomic disorders. Small fiber peripheral neuropathy often is clinically manifested at young ages. Peripheral pain can be chronic and/or can occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with AFD often remain undiagnosed until the emergence of a more typical clinical manifestation, characterized by chronic renal and cardiac failure. Early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level, which can substantially improve the quality of these patients. Thus, it is important that physicians consider AFD in the differential diagnosis of neurological manifestations to provide an appropriate diagnostic and therapeutic workup.
安德森-法布里病的神经学表现
安德森-法布里病(Anderson-Fabry disease, AFD)是由Xq22染色体上α-半乳糖苷酶A基因突变导致α-半乳糖苷酶A酶缺乏症引起的一种x连锁溶酶体贮积症。它的特点是脂质(如球三烷基神经酰胺)在各种细胞类型的溶酶体中渐进式积累,包括神经细胞。除脑血管意外外,神经系统表现包括小纤维神经病变和自主神经障碍。小纤维周围神经病变常在年轻时表现出来。外周性疼痛可以是慢性的和/或可以发生剧烈疼痛的诱发性发作。小自主神经纤维功能障碍的表现可能包括出汗受损、胃肠运动障碍和疼痛感觉异常。AFD患者通常在出现更典型的临床表现(以慢性肾脏和心力衰竭为特征)之前无法确诊。酶替代疗法的早期临床益处包括减少神经性疼痛,并将残余疼痛适当地控制到可耐受和功能水平,这可以大大提高这些患者的质量。因此,医生在神经系统表现的鉴别诊断中考虑AFD以提供适当的诊断和治疗检查是很重要的。
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