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Alberto Ortiz, MD

Alberto Ortiz, MD

Chief of Nephrology and Hypertension
Renal Unit, IIS-Fundacio?n Jime?nez Di?az
Universidad Auto?noma de Madrid, FRIAT
Madrid, Spain

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Can you summarize the pathophysiology and pathobiology of renal impairment, and associated findings—in particular, albuminuria—on renal function testing, in the setting of Fabry Disease?

Can you summarize the pathophysiology and pathobiology of renal impairment, and associated findings—in particular, albuminuria—on renal function testing, in the setting of Fabry Disease?

What is the role of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations in the pathology—including, as soluble, circulating mediators—of renal disease in FD?

What is the role of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations in the pathology—including, as soluble, circulating mediators—of renal disease in FD?

Can you construct a diagnostic roadmap—including family history, symptom complexes, and/or biomarker manifestations—for the nephrologist that will optimize detection of FD at the front lines of practice?

Can you construct a diagnostic roadmap—including family history, symptom complexes, and/or biomarker manifestations—for the nephrologist that will optimize detection of FD at the front lines of practice?

What other target organs should be evaluated to corroborate the diagnosis? What is the “pathologic march” of FD and what is the sequence of target organ deterioration in males with classic disease vs. females?

What other target organs should be evaluated to corroborate the diagnosis? What is the “pathologic march” of FD and what is the sequence of target organ deterioration in males with classic disease vs. females?

Do all patients with FD have the same propensity to develop Fabry renal disease, and how does the male/female incidence discordance help us make the diagnosis?

Do all patients with FD have the same propensity to develop Fabry renal disease, and how does the male/female incidence discordance help us make the diagnosis?

Can you summarize the current guidelines and/or recommendations from Europe and the U.S. for diagnostic evaluation and treatment of FD?

Can you summarize the current guidelines and/or recommendations from Europe and the U.S. for diagnostic evaluation and treatment of FD?

How early in childhood are the renal manifestations present in classic Fabry in males? What is the natural history of renal dysfunction and what specific metrics related to albuminuria/proteinuria should be followed and increase suspicion of FD?

How early in childhood are the renal manifestations present in classic Fabry in males? What is the natural history of renal dysfunction and what specific metrics related to albuminuria/proteinuria should be followed and increase suspicion of FD?

What is your systematic, step-by-step diagnostic work-up for a young/adolescent male in whom the diagnosis of FD must be considered and/or ruled out? What genetic tests should be performed?

What is your systematic, step-by-step diagnostic work-up for a young/adolescent male in whom the diagnosis of FD must be considered and/or ruled out? What genetic tests should be performed?

What are the key diagnostic parameters—specifically, urinary and related renal biomarkers, including albuminuria and creatine—that should increase awareness of and prompt evaluation and further genetic testing for Fabry disease?

What are the key diagnostic parameters—specifically, urinary and related renal biomarkers, including albuminuria and creatine—that should increase awareness of and prompt evaluation and further genetic testing for Fabry disease?