Tlili S, Ghabi H, Mami I, Ben Hmida F, Rais L, Zouaghi MK. Renal involvement in Fabry disease from Tunisian families: Six case reports. World J Nephrol 2026; 15(2): 109420 [DOI: 10.5527/wjn.v15.i2.109420]
Corresponding Author of This Article
Syrine Tlili, Associate Professor, Department of Nephrology, Dilaysis and Transplantation, La Rabta Hospital, Street Jebberi, Tunis 1007, Tunisia. syrine.tlili@fmt.utm.tn
Research Domain of This Article
Urology & Nephrology
Article-Type of This Article
case-report
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Tlili S, Ghabi H, Mami I, Ben Hmida F, Rais L, Zouaghi MK. Renal involvement in Fabry disease from Tunisian families: Six case reports. World J Nephrol 2026; 15(2): 109420 [DOI: 10.5527/wjn.v15.i2.109420]
Syrine Tlili, Hiba Ghabi, Ikram Mami, Lamia Rais, Mohamed Karim Zouaghi, Department of Nephrology, Dialysis and Transplantation, La Rabta Hospital, Tunis 1007, Tunisia
Fethi Ben Hmida, Research Laboratory in Renal Pathology LR00SP01, Medicine School of Tunis, Tunis El Manar University, Charles Nicole Hospital, Tunis 1007, Tunisia
Author contributions: Tlili S, Ghabi H, Mami I, Ben Hmida F, Rais L, and Zouaghi MK contributed to the conception and drafting of the manuscript; Rais L performed the histopathological analysis and interpretation of kidney biopsies; Tlili S, Ghabi H, Mami I, Ben Hmida F, and Zouaghi MK critically revised the manuscript; and all authors approved the final version.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Syrine Tlili, Associate Professor, Department of Nephrology, Dilaysis and Transplantation, La Rabta Hospital, Street Jebberi, Tunis 1007, Tunisia. syrine.tlili@fmt.utm.tn
Received: May 12, 2025 Revised: June 20, 2025 Accepted: March 27, 2026 Published online: June 25, 2026 Processing time: 398 Days and 22.7 Hours
Abstract
BACKGROUND
Fabry disease (FD) is a rare X-linked metabolic disorder caused by a deficiency or absence of alpha-galactosidase A activity. It leads to the progressive accumulation of glycosphingolipids in various organs, resulting in multisystem dysfunction. Renal involvement has been reported in 50% of affected males and 20% of females, with a wide phenotypic spectrum-even within the same family.
CASE SUMMARY
We identified six cases of FD with renal involvement from our institutional database, originating from three unrelated families (A, B, and C). Five patients were male, aged 16 to 29 years (mean: 21.3; median: 22.5), and one was a 16-year-old female. All patients presented with proteinuria, including one with nephrotic syndrome. Hypertension was documented in two cases. Renal function varied from hyperfiltration in four patients to advanced chronic kidney disease in two, one of whom progressed to end-stage renal disease requiring hemodialysis. Renal biopsy, performed in two cases, revealed characteristic vacuolated podocytes consistent with Fabry nephropathy. Four patients received enzyme replacement therapy.
CONCLUSION
Renal involvement in FD is often underdiagnosed due to the heterogeneity of clinical presentation. Early diagnosis and timely initiation of enzyme replacement therapy can delay progression to chronic kidney disease and improve long-term outcomes.
Core Tip: Fabry disease is a rare genetic disorder with variable clinical expression, often underdiagnosed in developing countries. Renal involvement, although frequent and prognostically significant, may be subtle or misattributed to more common nephropathies. This report of six related cases highlights the diagnostic challenges in recognizing Fabry nephropathy, particularly where access to genetic testing and renal biopsy is limited. Early identification through family screening and targeted evaluation is crucial to improve renal outcomes, especially in low-resource settings.
