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Abstract：
Fabry disease is a systemic and genetic disorder resulting from an α-galactosidase A enzymatic deficiency leading to sphingolipid accumulation in lysosomes: it remains a rare and poorly-known disease. This study aimed to know the formation of nephrologists, their knowledge, and their habits both in terms of screening and management in this field. Answers form 152 nephrologists have been analyzed: few doctors directly managed Fabry disease patient (22 %) and 18 % have already made the diagnosis by their own. Formation seems to be insufficient and most of them did not fully know symptoms, as resources already available (associations, collecting database, etc.). Some indications for the treatment are also poorly known (mainly regarding end stage renal disease). Information is mainly provided by of firms\' staff. A knowledge score was calculated: the kidney injury is also poorly known (less than 50 % of correct answers) even if 50 % of nephrologists performed appropriate testing and confirmation, around 65 % knew the symptoms, treatment indication and the main key points of the disease. Fabry disease is still an unknown disorder, unless early diagnosis tools and therapeutics exist to reduce its complications. Nephrology community has to invest more formation about symptoms, testing, and medical care.
摘要：
法布里病是由α-半乳糖苷酶A酶缺乏导致鞘脂在溶酶体中积累引起的系统性和遗传性疾病:它仍然是一种罕见且鲜为人知的疾病。这项研究旨在了解肾脏病学家的形成，他们的知识,以及他们在这一领域的筛查和管理方面的习惯。答案形式152肾病专家已经被分析：少数医生直接管理法布里病患者（22％）和18％已经由他们自己做出了诊断。形成似乎是不够的，他们中的大多数没有完全知道症状，作为已经可用的资源(关联，收集数据库，等。).治疗的一些适应症也鲜为人知(主要是关于终末期肾病)。信息主要由公司员工提供。计算了知识得分：即使50％的肾脏病学家进行了适当的测试和确认，肾脏损伤也鲜为人知（正确答案的不到50％）。大约65%的人知道这些症状，治疗指征和疾病的主要要点。法布里病仍然是一种未知的疾病，除非早期诊断工具和治疗方法的存在，以减少其并发症。肾脏病界必须投入更多的症状形成，测试,和医疗保健。
