Small fiber neuropathy in Fabry disease

被引：72

作者：

Biegstraaten, Marieke ^{[1
]}

Hollak, Carla E. M. ^{[1
]}

Bakkers, Mayienne ^{[2
]}

Faber, Catharina G. ^{[2
]}

Aerts, Johannes M. F. G. ^{[3
]}

van Schaik, Ivo N. ^{[4
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Internal Med, Div Endocrinol & Metab, NL-1100 DE Amsterdam, Netherlands

[2] Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Dept Med Biochem, NL-1105 AZ Amsterdam, Netherlands

[4] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands

来源：

MOLECULAR GENETICS AND METABOLISM | 2012年 / 106卷 / 02期

关键词：

Fabry disease; Small fiber neuropathy; ENZYME-REPLACEMENT THERAPY; HEREDITARY SENSORY NEUROPATHY; CLINICAL-MANIFESTATIONS; DIAGNOSTIC-CRITERIA; AGALSIDASE-ALPHA; NERVE-FIBERS; BLOOD-FLOW; SYMPTOMS; INNERVATION; CHILDREN;

D O I：

10.1016/j.ymgme.2012.03.010

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Previous studies have explicitly shown that small nerve fibers are affected in Fabry disease which is assumed to cause the severe neuropathic pain that patients may have from childhood on. Neuropathic pain and small fiber neuropathy characteristics have therefore been considered as appropriate study endpoints in studies on the efficacy of enzyme replacement therapy. However, the relationship between small fiber neuropathy characteristics and pain, as well as the course of small fiber neuropathy in Fabry disease is still uncertain. In this article a comprehensive overview of the existing literature on small nerve fiber function and structure and the relationship with pain, age and disease severity is presented supplemented with data from the Dutch Fabry cohort, with the aim to identify consensus as well as controversies and to propose a hypothesis on the evolution of neuropathy in Fabry disease. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：135 / 141

页数：7

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