Fabry disease - importance of screening in cornea verticillata: case report.
نویسندگان
چکیده
Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In late stages, kidney, heart and brain can be involved. This report attempts for importance of cornea verticillata in the diagnosis of Fabry disease in a young patient with pain in the lower limb extremities.
منابع مشابه
بیماری آندرسون ـ فابری: گزارش یک مورد
Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as ...
متن کامل[Cornea verticillata - a clinical marker of Fabry disease: case report].
Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvemen...
متن کاملOcular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease
Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a large, global database sponsored by Shire, were selected for adult patients who had undergone op...
متن کاملp.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease
BACKGROUND Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. CA...
متن کامل[Ophthalmic manifestations in Mexican patients with Fabry disease].
UNLABELLED Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. AIM To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients wi...
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ورودعنوان ژورنال:
- Arquivos brasileiros de oftalmologia
دوره 74 6 شماره
صفحات -
تاریخ انتشار 2011