Kidney disease in Fabry patients has become more common since 2000

Analysis included data from 10,637 Fabry patients treated between 2000-2020

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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Over the past two decades, kidney disease and urinary tract problems have become more common among people with Fabry disease, especially among female or Black patients.

That’s according to the study, “Prevalence of Kidney and Urinary Tract Complications in Fabry Disease from 2000 to 2020: A Global Cohort Study Including 10,637 Patients,” which was published in In Vivo.

“These findings point to an alarming rise in renal and urologic morbidity in Fabry disease, particularly among females and Black/African American patients. Further research should explore reasons for these trends and strategies to improve outcomes,” the scientists wrote.

Damage to the kidneys and other parts of the urinary system is a common symptom of Fabry disease. Fabry is caused by mutations in the gene that provides instructions to make the enzyme alpha-galactosidase A (Gal A); without this enzyme, fatty molecules build up to toxic levels in cells, which can cause damage to organs.

Enzyme replacement therapies, or ERTs, are a mainstay of Fabry treatment that involve administering a functional version of the Gal A enzyme as medicine. The first Fabry ERT was introduced in the early 2000s.

Since ERTs can address the underlying cause of Fabry, it’s generally been expected that the new treatment would lead to lower rates of kidney problems for patients.

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Rates of kidney disease, related issues from two decades examined

In this study, scientists in China analyzed data from 10,637 people with Fabry disease in the U.S. who were treated between 2000 and 2020. The scientists compared rates of kidney disease and related problems among patients in the first decade (2000 to 2010) to the second (2010 to 2020).

“This large cohort study provides a unique window into the contemporary burden of Fabry nephropathy [kidney disease] in the context of ERT availability,” the researchers wrote, adding that this type of research “provides a vital snapshot of real-world Fabry nephropathy outcomes that can inform quality improvement and health policy initiatives across diverse healthcare systems to address this serious disease complication.”

Results showed that, across all outcomes assessed, rates were more common in the 2010s than in the decade prior.

“Of particular note, the prevalence of advanced chronic kidney disease stages 4 and 5 [severe or end-stage disease] nearly doubled over the study period,” the researchers wrote.

The increase in rates of kidney disease were generally more dramatic in female or Black/African American patients, compared with other sexes or ethnic groups, respectively.

While the researchers stressed that more studies are needed to understand the reason for these trends, they noted several potential factors that may play a role, including inadequate screening and disparities in access to care.

“The findings have practice relevance highlighting needs to improve awareness, optimize screening and treatment protocols, enhance monitoring for complications, and reduce disparities,” the scientists concluded.