[Fabry disease's screening: Results from the first French survey on nephrologists habits]

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.