Renal ultrasound in 25 patients with Fabry disease: incidence of renal cystic pathology
Abstract
Introduction: Fabry disease is an X-linked recessive inbom error of glycosphingolipid catabolism caused by the deficient activity of u-galactosidase A, that results in the progressive accumulation of globotriaosyceramide in different cells of organism. Patiens frequently die for renal or cardiac insufficiency. Objective: To assess 25 patients (16 hemicygotes) with confirm diagnosis of Fabry disease without renal insufficieney. Results: Renal diameter were normal, 24% ot total patients showed eystic abnormalitics. Conclusion: Although our group was srnall, but we found a high inciden ce of cystic abnormalities compared with normal population and smaller than other reports.References
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