[女性法布里氏病——一个跨学科的诊断和治疗挑战]。

Medizinische Klinik Pub Date : 2010-09-01 Epub Date: 2010-09-28 DOI:10.1007/s00063-010-1102-y
Frank Weidemann, Markus Niemann, Claudia Sommer, Meinrad Beer, Frank Breunig, Christoph Wanner
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引用次数: 1

摘要

法布里氏病是一种罕见的遗传性储存疾病,导致各种器官溶酶体中球三神经酰胺的积累。由于与x染色体相关,过去的大多数研究都集中在男性患者身上。然而,最近已经阐明,女性患者可以表现出典型的器官受累,因此,必须分别治疗。本摘要希望系统回顾女性法布里患者的典型器官受累。此外,还讨论了针对女性患者的治疗建议。
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[Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge].

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.

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Medizinische Klinik
Medizinische Klinik 医学-医学:内科
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