5th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities. April 25-27, 2017, Mexico City, Mexico: Abstracts | Zendy

Daynia Ballot | Zendy; Abdullahi Mudi | Zendy; Hopewell Ntsinjana | Zendy; Caroline Dickens | Zendy; Cecil Levy | Zendy; Sabrina Milan Manani | Zendy; Grazia Maria Virzì | Zendy; Anna Clementi | Zendy; Alessandra Brocca | Zendy; Claudio Ronco | Zendy; Anna Giuliani | Zendy; Daniela Dissegna | Zendy; Francesca Martino | Zendy; Emanuele S.G. dʼAmore | Zendy; Tuula K. Outinen | Zendy; Jan Clément | Zendy; Heini Huhtala | Zendy; Ilkka Pörsti | Zendy; Jukka Mustonen | Zendy; Satu Mäkelä | Zendy; Paula Mantula | Zendy; Antti Vaheri | Zendy; Amir Kazory | Zendy; Abhilash Koratala | Zendy; Natalie Yap | Zendy; Phillip Wong | Zendy; Stella McGinn | Zendy; Maria-Liza Nery | Zendy; Jean Doyle | Zendy; Lynda Wells | Zendy; P. CliftonBligh | Zendy; Roderick CliftonBligh | Zendy; Lauren Emmett | Zendy; Smeeta Sinha | Zendy; James Tollitt | Zendy; Sheila McCorkindale | Zendy; Dimitrios Poulikakos | Zendy; Ladan Mansouri | Zendy; Stefan H. Jacobson | Zendy; Britta Hylander | Zendy; Joachim Lundahl | Zendy; Anopp | Zendy; Mizpah Publishing Service | Zendy; Druckerei Stückle | Zendy

Open Access

5th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities. April 25-27, 2017, Mexico City, Mexico: Abstracts

Author(s) -

Daynia Ballot,

Abdullahi Mudi,

Hopewell Ntsinjana,

Caroline Dickens,

Cecil Levy,

Sabrina Milan Manani,

Grazia Maria Virzì,

Anna Clementi,

Alessandra Brocca,

Claudio Ronco,

Anna Giuliani,

Daniela Dissegna,

Francesca Martino,

Emanuele S.G. dʼAmore,

Tuula K. Outinen,

Jan Clément,

Heini Huhtala,

Ilkka Pörsti,

Jukka Mustonen,

Satu Mäkelä,

Paula Mantula,

Antti Vaheri,

Amir Kazory,

Abhilash Koratala,

Natalie Yap,

Phillip Wong,

Stella McGinn,

Maria-Liza Nery,

Jean Doyle,

Lynda Wells,

P. CliftonBligh,

Roderick CliftonBligh,

Lauren Emmett,

Smeeta Sinha,

James Tollitt,

Sheila McCorkindale,

Dimitrios Poulikakos,

Ladan Mansouri,

Stefan H. Jacobson,

Britta Hylander,

Joachim Lundahl,

Anopp,

Mizpah Publishing Service,

Druckerei Stückle

Publication year - 2017

Publication title -

the nephron journals/nephron journals

Language(s) - English

Resource type - Journals

eISSN - 2235-3186

pISSN - 1660-8151

DOI - 10.1159/000475511

Subject(s) - medicine , fabry disease , mexico city , nephropathy , gerontology , endocrinology , disease , diabetes mellitus , humanities , philosophy

Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the GLA gene coding for α-galactosidase A (α-GalA). These mutations lead to the accumulation of α-GalA substrates, including globotriaosylceramide (Gb3). As a consequence of lipid storage, Fabry patients can suffer from neuropathic pain, impaired kidney function and cardiomyopathy. Existing treatments for FD either require bi-weekly intravenous infusions of replacement enzyme, or are effective in a limited number of patients with specific “amenable” mutations. Substrate reduction therapy with lucerastat, an orally-available small molecule inhibitor of glucosylceramide synthase (GCS)1 is an alternative mechanism to reduce Gb3 accumulation, that would be suitable for all FD patients

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