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Poster: 27
Visits: 41
Title: FABRY DISEASE. RENAL INVOLVEMENT IN WOMEN IS MORE FREQUENT THAN EXPECTED
Authors: Fernando Perretta , Sebastián Jaurretche y Norberto Antongiovanni
Centre: Hospital Dr. E. Erill de Escobar, Pcia. de Buenos Aires, Argentina
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FABRY DISEASE. RENAL INVOLVEMENT IN WOMEN IS MORE FREQUENT THAN EXPECTED.
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 | | Fernando Perretta |
Thread initiator
Subspeciality
Reg: 5/13/2017 4:52:00 AM
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Comment# 1
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Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes of vessels, nerves, tissues, and organs throughout the body. The disorder is a systemic disease, manifest as progressive renal failure, cardiac disease and cerebrovascular disease, among other abnormalities. Practically, all men with a genetic mutation (homozygous) develop the disease, whereas women (heterozygous) present a wide variability in the severity of their phenotype. Specifically, renal involvement is manifested by albuminuria, proteinuria, and progressive renal failure until renal replacement therapy is required. Like other rare diseases, it has been difficult to understand the natural progression of FD, especially in women.
Comment added on 5/13/2017 4:52:00 AM
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| Most viewed poster for this congress |
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Poster: 9
Visits: 267
Title: Report on dialysis and kidney transplantation in Serbia 2011-2014. Compare to others
Authors: Simic Ogrizovic Sanja ,
Centre: Serbian society of nephrology
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| Poster most viewed in this topic |
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Poster: 38
Visits: 58
Title: PREFINE PROJECT: STRATEGIC PLAN TO IMPROVE KNOWLEDGE & RECOGNITION OF FABRY DISEASE AMONG SPANISH NEPHROLOGISTS
Authors: Maria Dolores del Pino , Pedro Vidau, Vicens Torregrosa, Joan Torras, Rafael Santamaria, Jose Carlos Rodriguez, Manuel Posada,Jose Paniagua, Maria Isabel Martinez, Jose Luño, Domingo Hernandez, Juan de Dios Garcia, Elvira Fernandez, Joaquin de Juan, Ana Avila, Amado Andres
Centre: Hospital Torrecardenas
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