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. 2023 Nov-Dec;37(6):2609-2617.
doi: 10.21873/invivo.13368.

Prevalence of Kidney and Urinary Tract Complications in Fabry Disease from 2000 to 2020: A Global Cohort Study Including 10,637 Patients

Tsung-Hsun Tsai  1 , Chung-Hsing Wang  2   3   4   5 , Shang-Lun Chiang  6 , Jing-Yang Huang  7   8 , DA-Tian Bau  9   10 , Yu-Nan Huang  11   3 , Pen-Hua Su  12   3
Affiliations

Prevalence of Kidney and Urinary Tract Complications in Fabry Disease from 2000 to 2020: A Global Cohort Study Including 10,637 Patients

Tsung-Hsun Tsai et al. In Vivo. 2023 Nov-Dec.

Retraction in

  • Retractions.
    [No authors listed] [No authors listed] In Vivo. 2024 Jul-Aug;38(4):2097. doi: 10.21873/invivo.13670. In Vivo. 2024. PMID: 38936953 No abstract available.

Abstract

Background/aim: Fabry disease, an X-linked lysosomal storage disorder, causes progressive globotriaosylceramide accumulation in cells throughout the body. Characteristic multiorgan manifestations include renal dysfunction (Fabry nephropathy) and associated urinary tract complications. Enzyme replacement therapy (ERT) has been available since 2001, but contemporary real-world data are lacking regarding Fabry nephropathy risks and treatment outcomes.

Patients and methods: This retrospective cohort study analyzed electronic medical records data for 10,637 Fabry disease patients from the TriNetX research database. Kidney and urinary tract outcomes were evaluated over two decades, 2000-2010 and 2011-2020. Outcomes assessed included chronic kidney disease (CKD), urinary tract infections, urinary incontinence, obstruction, renal insufficiency, and end-stage renal disease (ESRD).

Results: The prevalence of stage 4-5 CKD nearly doubled between 2000-2010 and 2011-2020, while ESRD prevalence rose over 4-fold. Incidence rates showed similar marked elevations across renal and urologic complications. Females and Black patients experienced disproportionate escalations in kidney and urinary tract morbidity.

Conclusion: This large cohort study revealed significantly increased Fabry nephropathy and associated urologic complications over the past two decades, contradicting expectations of reduced morbidity with ERT availability. The findings highlight needs to optimize screening, treatment strategies, monitoring practices, and address disparities to curb rising disease burden and improve patient outcomes.

Keywords: Fabry disease; Fabry nephropathy; Renal complications; globotriaosylceramide; urinary tract complications.

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Conflict of interest statement

All Authors declare no conflicts of interest associated with this study.

Figures

Figure 1
Figure 1. Flow diagram of Fabry disease patients’ selection from TriNetX database.
Figure 2
Figure 2. Incidence of kidney and urinary tract complications in Fabry disease during 2000-2010 and 2011-2020 follow-up. CKD: Chronic kidney disease; OORU: other obstructive and reflux uropathy; CK: kidney stone; CU: ureteral stone, DKU: disorder of the kidney and ureter; UTI: urinary tract infection; SI: stress incontinence; OSUI: other specified urinary incontinence; BPHLUTS: benign prostatic hyperplasia with lower urinary tract symptoms; UUI: unspecified urinary incontinence; RU: urine retention; CKD4: stage 4 chronic kidney disease; CKD5: stage 5 chronic kidney disease; ESRD: end stage renal disease.
Figure 3
Figure 3. Prevalence of kidney and urinary tract complications in Fabry disease during 2000-2010 and 2011-2020 follow-up. CKD: Chronic kidney disease; OORU: other obstructive and reflux uropathy; CK: kidney stone; CU: ureteral stone, DKU: disorder of the kidney and ureter; UTI: urinary tract infection; SI: stress incontinence; OSUI: other specified urinary incontinence; BPHLUTS: benign prostatic hyperplasia with lower urinary tract symptoms; UUI: unspecified urinary incontinence; RU: urine retention; CKD4: stage 4 chronic kidney disease; CKD5: stage 5 chronic kidney disease; ESRD: end stage renal disease.
Figure 4
Figure 4. Incidence rate of kidney and urinary tract complications in Fabry disease during 2000-2010 and 2011-2020 follow-up. CKD: Chronic kidney disease; OORU: other obstructive and reflux uropathy; CK: kidney stone; CU: ureteral stone, DKU: disorder of the kidney and ureter; UTI: urinary tract infection; SI: stress incontinence; OSUI: other specified urinary incontinence; BPHLUTS: benign prostatic hyperplasia with lower urinary tract symptoms; UUI: unspecified urinary incontinence; RU: urine retention; CKD4: stage 4 chronic kidney disease; CKD5: stage 5 chronic kidney disease; ESRD: end stage renal disease.
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