Pulmonary involvement in Fabry disease: Overview and perspectives

被引：25

作者：

Franzen, Daniel ^{[1
,2
]}

Krayenbuehl, Pierre A. ^{[1
]}

Lidove, Olivier ^{[3
]}

Aubert, John-David ^{[4
]}

Barbey, Frederic ^{[5
]}

机构：

[1] Univ Zurich Hosp, Dept Internal Med, CH-8091 Zurich, Switzerland

[2] Univ Zurich Hosp, Div Pneumol, CH-8091 Zurich, Switzerland

[3] Hop Croix St Simon, Dept Internal Med & Rheumatol, Paris, France

[4] Univ Lausanne, CHU Vaudois, Div Pneumol, Lausanne, Switzerland

[5] Univ Lausanne, CHU Vaudois, Transplantat Ctr, Lausanne, Switzerland

来源：

EUROPEAN JOURNAL OF INTERNAL MEDICINE | 2013年 / 24卷 / 08期

关键词：

Fabry disease; Lung; Pulmonary; Respiratory; Obstructive; Bronchiolar; ENZYME REPLACEMENT THERAPY; FEV1; DECLINE; PREVALENCE; COPD; DIAGNOSIS; MANIFESTATIONS; BURDEN; ADULTS;

D O I：

10.1016/j.ejim.2013.05.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A, which leads to storage of sphingolipids in virtually all human cells and consequently to organ dysfunction. Pulmonary involvement is still debated. But, obstructive lung disease is up to ten times more prevalent in patients with FD compared to general public. Also, an accelerated decline in forced expiratory volume in one second (FEV1) over time was observed in these patients. Lysosomal storage of glycosphingolipids is considered leading to small airway disease via hyperplasia of the bronchiolar smooth muscle cells. Larger airways may become involved with ongoing disease process. There is no evidence for involvement of the lung interstitium in FD. The effect of enzyme replacement therapy on respiratory involvement remains to be determined in large, prospective controlled trials. (C) 2013 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

引用

页码：707 / 713

页数：7

共 56 条

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