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Fabry Nephropathy

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Amyloidosis and Fabry Disease

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Abstract

One of the main features of Fabry disease (FD) is insidious and progressive Fabry Nephropathy. These patients should have the same general measures as all patients with proteinuric kidney disease, such as control of proteinuria and hypertension, salt restriction, and modification of lifestyle, in addition to specific therapy. Specific therapy should be individualized for each patient in a sharing decision with the patient and his family. Enzyme replacement therapy (ERT) is appropriate for all patients with FD, regardless of the type of the GLA variant. Chaperone therapy is a choice only for patients with amenable variants and should not be used in patients with eGFR < 30 mL/min/1.73m2 and/or those under 16 years old. Finally, emerging therapies are under research, including next-generation ERT (pegunigalsidase alfa, moss-derived α-galactosidase A), substrate reduction therapy (lucerastat, venglustat), mRNA therapy, and gene therapy, which may provide better control of Fabry disease in the future.

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Authors and Affiliations

  1. Pediatric Nephrology Unit, University of Sao Paulo, São Paulo, Brazil

    Maria Helena Vaisbich

  2. Departamento de Medicina Interna, Universidade Estadual Paulista, Botucatu, São Paulo, Brazil

    Luis Gustavo Modelli de Andrade

  3. Nephrology Service, Senhor do Bonfim Group, Feira de Santana, BA, Brazil

    Cassiano Augusto Braga Silva

  4. Nephrology Service, Departamento de Medicina Interna, Universidade Federal do Paraná, Curitiba, PR, Brazil

    Fellype Carvalho Barreto

  5. Nephropathology Service, General Pathology, Federal University of Triângulo Mineiro, Uberaba, Brazil

    Marlene Antonia dos Reis

Authors
  1. Maria Helena Vaisbich
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  2. Luis Gustavo Modelli de Andrade
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  3. Cassiano Augusto Braga Silva
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  4. Fellype Carvalho Barreto
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  5. Marlene Antonia dos Reis
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Correspondence to Maria Helena Vaisbich .

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Editors and Affiliations

  1. Postgraduate Program in Cardiovascular Science, Fluminense Federal University, Niteroi, Rio de Janeiro, Brazil

    Diane Xavier de Ávila

  2. Cardiology Division, Fluminense Federal University, Niterói, Rio de Janeiro, Brazil

    Humberto Villacorta Junior

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Vaisbich, M.H., de Andrade, L.G.M., Silva, C.A.B., Barreto, F.C., dos Reis, M.A. (2023). Fabry Nephropathy. In: Xavier de Ávila, D., Villacorta Junior, H. (eds) Amyloidosis and Fabry Disease. Springer, Cham. https://doi.org/10.1007/978-3-031-17759-0_27

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