Improvement in Decline Rate of Estimated Glomerular Filtration Rate after Febuxostat Treatment in a Fabry Disease Patient with Enzyme Replacement Therapy-resistant Proteinuria

Fabry disease is an inherited lysosomal disorder caused by mutations in the alpha-galactosidase A gene. We herein report a Fabry disease patient with enzyme replacement therapy (ERT)-resistant proteinuria who showed improvement in the estimated glomerular filtration rate (eGFR) decline rate after ur...

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Detalles Bibliográficos
Autores principales: Kume, Shinji, Yasuda-Yamahara, Mako, Imamura-Uehara, Yoshimi, Kuwagata, Shogo, Yamahara, Kosuke, Takeda, Naoko, Chin-Kanasaki, Masami, Kato, Koichi, Ohno, Seiko, Nakagawa, Yoshihisa, Maegawa, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646352/
https://www.ncbi.nlm.nih.gov/pubmed/35283375
http://dx.doi.org/10.2169/internalmedicine.8993-21
Descripción
Sumario:Fabry disease is an inherited lysosomal disorder caused by mutations in the alpha-galactosidase A gene. We herein report a Fabry disease patient with enzyme replacement therapy (ERT)-resistant proteinuria who showed improvement in the estimated glomerular filtration rate (eGFR) decline rate after uric acid (UA)-lowering therapy. The patient was diagnosed with Fabry disease at 36 years old. After that, even under ERT, proteinuria and eGFR decline persisted. During the clinical course, serum UA levels were elevated with increases in renal tubular damage markers. Febuxostat administration immediately improved tubular damage and prevented further eGFR decline. UA-mediated tubulopathy may become an additional therapeutic target for eGFR decline in Fabry disease.

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