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Alberto Ortiz, MD

Alberto Ortiz, MD

Chief of Nephrology and Hypertension
Renal Unit, IIS-Fundacion Jimenez Diaz
Universidad Autonoma de Madrid, FRIAT
Madrid, Spain

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?

Alberto Ortiz, MD

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?

Alberto Ortiz, MD

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?

Alberto Ortiz, MD

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?

Alberto Ortiz, MD

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?

Alberto Ortiz, MD

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?

Alberto Ortiz, MD

If initial genetic tests or the clinical picture—proteinuria, family history, no evidence of diabetes—suggest FD, what is the next level of diagnostic genetic tests, i.e. mutational testing, that should be performed?

If initial genetic tests or the clinical picture—proteinuria, family history, no evidence of diabetes—suggest FD, what is the next level of diagnostic genetic tests, i.e. mutational testing, that should be performed?

John Jefferies, MD

Is there a relationship between Gb3 levels and renal Fabry Disease and what is the relationship between Gb3 levels in the classic variant of FD?

Is there a relationship between Gb3 levels and renal Fabry Disease and what is the relationship between Gb3 levels in the classic variant of FD?

Alberto Ortiz, MD

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?

Alberto Ortiz, MD

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?

Alberto Ortiz, MD

Why is it important—the mandate, in fact—to diagnose FD, and what is the current evidence and/or expert consensus about the use of either chaperone therapy with migalastat or ERT to mitigate progression of FD in the kidney and in other target organs?

Why is it important—the mandate, in fact—to diagnose FD, and what is the current evidence and/or expert consensus about the use of either chaperone therapy with migalastat or ERT to mitigate progression of FD in the kidney and in other target organs?

Alberto Ortiz, MD

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?

Alberto Ortiz, MD