Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.
Ivana CapuanoCarlo GarofaloPasquale BuonannoMichele PinelliTeodolinda Di RisiSandro FeriozziEleonora RiccioAntonio PisaniPublished in: Journal of nephrology (2019)
Although the real prevalence of classic FD is low, the screening in the high-risk renal population remains of primary interest as an early diagnosis is fundamental for a timely specific therapy; moreover, the identification of index cases could allow patients' relatives to be investigated and promptly treated.