Fabry’s disease, an eye-kidney disease review

Guedes-Marques, M; Mira, F; Ferreira, E; Pinto, H; Maia, P; Mendes, T; Carreira, A; Campos, M

http://hdl.handle.net/10400.4/1796

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Abstract(s)

Fabry’s disease is a recessive X -linked disorder that results from a deficiency of the hydrolase alpha- -galactosidase A (α -Gal A). The absence of α -Gal A enzyme activity leads to accumulation of glycosphingolipid globotryaosylceramide (GL -3) in the lysosomes of a variety of cell types. It can cause skin and ocular lesions, progressive renal, cardiac or cerebrovascular disorders. The authors report the case of a 39 -year -old female who was referred to a nephrology appointment by her ophthalmologist, after the diagnosis of cornea verticillata and posterior subcapsular cataract. This case illustrates the importance of a multidisciplinary evaluation to an effective clinical screening. In males, most symptoms begin in childhood; in females the onset can be observed later and presentation is more variable. Various manifestations often lead to misdiagnosis or are frequently delayed for many years. Enzyme replacement therapy highlights the importance of early diagnosis so that treatment can be initiated before irreversible organ damage occurs.