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Publicação
Fabry’s disease, an eye-kidney disease review
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Orientador(es)
Resumo(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.
Descrição
Palavras-chave
Doença de Fabry Doenças dos Olhos
Contexto Educativo
Citação
Port J Nephrol Hypert 2015; 29(1): 15-20