Females with Fabry's Disease - an Interdisciplinary Diagnostic and Therapeutic Challenge

被引：0

作者：

Weidemann, Frank ^{[1
]}

Niemann, Markus

Sommer, Claudia ^{[2
]}

Beer, Meinrad ^{[3
]}

Breunig, Frank

Wanner, Christoph

机构：

[1] Univ Klin Wurzburg, Med Klin & Poliklin 1, Zentrum Innere Med, D-97080 Wurzburg, Germany

[2] Univ Klin Wurzburg, Neurol Klin & Poliklin, D-97080 Wurzburg, Germany

[3] Univ Klin Wurzburg, Inst Rontgendiagnost, D-97080 Wurzburg, Germany

来源：

MEDIZINISCHE KLINIK | 2010年 / 105卷 / 09期

关键词：

Fabry's disease; Diagnostics; Therapy; Lysosomal storage disorder; ENZYME REPLACEMENT THERAPY; QUALITY-OF-LIFE; NEPHROPATHY; WOMEN; PREVALENCE; SEVERITY;

D O I：

10.1007/s00063-010-1102-y

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal- linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.

引用

页码：627 / 634

页数：8

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