Published online Jun 25, 2026. doi: 10.5527/wjn.v15.i2.109420
Revised: June 20, 2025
Accepted: March 27, 2026
Published online: June 25, 2026
Processing time: 401 Days and 11.9 Hours
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 fe
We identified six cases of FD with renal involvement from our institutional da
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.
- Citation: 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
- URL: https://www.wjgnet.com/2220-6124/full/v15/i2/109420.htm
- DOI: https://dx.doi.org/10.5527/wjn.v15.i2.109420
Fabry disease (FD) is a rare X linked metabolic disorder caused by a deficiency or absence of alpha galactosidase A activity. The incidence of the FD ranges between 1/100000 and 1/500000 inhabitants[1]. It has been reported as the most frequent lipid storage disorder. As a consequence, undegradable lipids, mainly globotriaosylceramide (Gb3), are progressively accumulated in lysosomes of multiple organs. Thus FD is responsible for multiple organ dysfunction and irreversible damage[2]. Classic symptoms of FD are angiokeratomas, cornea verticillata, and acroparesthesia. But kidney and cardiac complications are the main contributors of morbi mortality in FD.
Renal involvement has been reported in 50% of males and 20% of females with a large phenotypic spectrum even within the same family[3].
We identified six cases of FD with renal involvement from our database. They came from three families (A, B, C). Diagnosis of FD was established through enzymatic assay in five patients, showing markedly reduced alpha-galactosidase A activity. Genetic testing was additionally performed in three cases, particularly in the female patient and during family screening, to confirm heterozygosity or identify variants of uncertain significance. Two patients underwent renal biopsy with histopathological features consistent with Fabry nephropathy. One patient, diagnosed at an advanced stage with end-stage renal disease, did not undergo genetic testing due to limited access at the time. All diagnoses were made in accordance with established clinical criteria, including characteristic signs, enzymatic deficiency, and/or molecular confirmation.
Five patients were male, aged 16 years to 29 years (mean 36.3, median 39.5), and one of them was female, aged 16 years. All patients had positive proteinuria with a nephrotic syndrome in one case. Hypertension was found in two patients. Concerning renal function, we noted a hyperfiltration in four cases while two patients presented an impaired one with a progression to end stage renal disease. A summary of baseline characteristics of patients is presented in Table 1.
| Patient ID | Age | Sex | Hypertension | Proteinuria (g/24 hours) | eGFR (mL/minute) | Extra-renal manifestations |
| A.1 | 29 | Male | Yes | 5.5 | 23.7 | Angiokeratoma, LVH, acroparesthesia, deafness |
| B.1 | 20 | Male | Yes | 2.6 | 75.1 | Angiokeratoma, seizure, LVH |
| B.2 | 22 | Male | No | 2.8 | 77.4 | None |
| C.1 | 25 | Male | No | 1.3 | 127 | Angiokeratoma, anhidrosis, acroparesthesia |
| C.2 | 23 | Male | No | Negative | 130 | None |
| C.3 | 16 | Female | No | Negative | 135 | None |
Renal biopsy was performed in two cases, revealing hypertrophic podocytes with vacuolated cytoplasm, consistent with glycolipid accumulation characteristic of FD.
Renal biopsy was limited to two cases due to resource constraints and clinical judgment that diagnosis could be confidently established via enzymatic findings in the remaining patients. In our setting, limited access to histopathology services and the absence of clinical indications for invasive diagnostics in patients with stable renal function also influenced this decision.
Family A: A 29-year-old man with no known family history of FD was referred to the nephrology department due to an edematous syndrome associated with hypertension and impaired renal function (serum creatinine: 250 μmol/L; estimated glomerular filtration rate (eGFR): 23.7 mL/minute).
Laboratory tests revealed nephrotic syndrome. FD was suspected based on the presence of characteristic skin lesions (angiokeratomas) and chronic neurological symptoms, including acroparesthesia. Further investigations identified left ventricular hypertrophy and hypoacusis.
Renal biopsy demonstrated segmental glomerulosclerosis and globally sclerotic glomeruli. Light microscopy revealed significant podocyte distention with abundant cytoplasmic vacuolation, classic findings consistent with FD. The diagnosis was confirmed via enzymatic assay, which showed markedly reduced alpha-galactosidase activity (0.5 μKat/kg of protein).
Unfortunately, his renal function progressively declined, necessitating initiation of hemodialysis one year later, highlighting the importance of early treatment initiation before the onset of irreversible damage. Enzyme replacement therapy was not initiated in this patient due to late diagnosis at an advanced stage of chronic kidney disease (eGFR 23.7 mL/minute). Enzyme replacement therapy (ERT) is less effective in patients with significant renal fibrosis or end-stage kidney disease and was therefore not considered. The patient was managed with supportive nephrological care and progressed to hemodialysis within one year.
Family B: The patient initially presented with neurological symptoms including seizures and was later diagnosed with FD. Four years after diagnosis, renal involvement appeared with proteinuria and impaired renal function.
Family C: The index patient initially presented with an ischemic stroke and clinical signs suggestive of FD. Renal involvement developed two years later with hyperfiltration and proteinuria.
Family A: No significant past medical history was reported before the onset of symptoms suggestive of FD.
Family B: A 20-year-old patient presented to the neurology department with a seizure. His medical history revealed a two-year history of neurological symptoms, and his elder brother had been diagnosed with FD. Brain magnetic resonance imaging demonstrated evidence of a prior ischemic stroke. Clinical examination further identified angiokeratomas, raising suspicion of FD. The diagnosis was subsequently confirmed through enzymatic assay, which revealed significantly reduced alpha-galactosidase activity.
Four years later, clinical evaluation uncovered significant proteinuria (2.6 g/24 hours) and impaired renal function (serum creatinine: 111 μmol/L; eGFR: 75.1 mL/minute). No other extra-renal manifestations were noted. The patient was referred to our nephrology service, where a renal biopsy was performed. Histological analysis revealed characteristic findings of FD, including enlarged podocytes with cytoplasm distended by numerous large vacuoles of varying sizes marked vacuolation. The cytoplasm of distal tubular epithelial and multiple vacuoles in the myocytes of arteries which are characteristic of sphingolipid accumulation, a hallmark of FD (Figure 1).
Despite regular ERT and nephroprotective treatment, the patient’s renal function progressively deteriorated. By the age of 29 years, he had reached end-stage renal disease (ESRD) and required maintenance dialysis.
The patient received enzyme replacement therapy with agalsidase beta at a dose of 1.0 mg/kg every two weeks, started shortly after diagnosis and maintained for approximately 9 years. Despite regular infusions and concurrent use of renin-angiotensin system (RAS) blockers, his renal function progressively declined, likely due to delayed treatment initiation and pre-existing vascular involvement at baseline.
Subsequent family screening identified his younger brother, a 22-year-old male, as also affected by FD. The younger sibling had been receiving ERT and initially exhibited normal renal function (serum creatinine: 86 μmol/L; eGFR: 77.4 mL/minute) but developed proteinuria (positive at 4 years). He was normotensive and received additional treatment with a RAS blocker at the maximum recommended dose. Currently, his renal function remains stable with significant improvement in proteinuria.
This patient was started early on enzyme replacement therapy with agalsidase beta (1.0 mg/kg biweekly) and maintained treatment for 4 years. He also received a maximal dose of RAS blockers. Early initiation of ERT contributed to preservation of renal function and significant reduction of proteinuria over time.
Family C: No significant past medical history was reported prior to the neurological presentation leading to the diagnosis of FD.
Family A: No known family history of FD was initially reported.
Family B: A positive family history of FD was noted, with the patient’s elder brother previously diagnosed.
Family C: A 25-year-old patient was diagnosed with FD following his presentation to the neurology department due to an ischemic stroke. The diagnosis was suspected based on the presence of other classic features of FD, including angiokeratomas, anhidrosis, and mild acroparesthesia. Enzymatic assay confirmed the diagnosis, revealing reduced serum alpha-galactosidase activity.
Two years later, the patient developed kidney involvement, characterized by hyperfiltration (serum creatinine: 53 μmol/L; eGFR: 127 mL/minute) and positive proteinuria (1.3 g/24 hours). As a result, he was started on enzyme replacement therapy with agalsidase, at the standard dose of 1.0 mg/kg biweekly and angiotensin-converting enzyme (ACE) inhibitors. Treatment was ongoing at the time of follow-up (2 years), with stable kidney function and no further cardiovascular events reported.
Subsequent family screening identified additional affected family members, including a 25-year-old brother and a 16-year-old sister. The phenotypic presentation in these relatives was primarily renal, with no proteinuria but evidence of hyperfiltration. They were also started on ERT in combination with RAS blockers.
Both siblings received ERT with agalsidase beta (1.0 mg/kg biweekly) following their identification through family screening. The 23-year-old male showed stable renal function after 3 years of treatment. The 16-year-old female had no clinical signs but began ERT preemptively to prevent disease progression, in line with recommendations for asymptomatic carriers with early renal involvement such as hyperfiltration.
A comparative summary of longitudinal renal outcomes and response to enzyme replacement therapy across the six patients is presented in Table 2.
| Patient ID | ERT start age | Baseline eGFR (mL/minute/1.73 m2) | eGFR after 2 years | Proteinuria trend | Outcome |
| A.1 | Not initiated | 23.7 | ESRD (year 1) | Increased | Dialysis |
| B.1 | 20 | 75.1 | 38 (year 9) | Stable, then ↑ | ESRD |
| B.2 | 22 | 77.4 | 76 (year 4) | ↓ | Stable |
| C.1 | 25 | 127 | 122 (year 2) | Stable | Stable |
| C.2 | 23 | 135 | 130 (year 3) | None | Stable |
| C.3 | 16 | 128 | 128 (year 2) | None | Stable |
Family A: Edematous syndrome associated with hypertension.
Family B: The 20-year-old patient’s clinical examination further identified angiokeratomas with neurological symptoms. His younger brother had no extra renal sympttoms.
Family C: The 25-year-old patiented classic features of FD, including angiokeratomas, anhidrosis, and mild acroparesthesia and neuroligical symptoms. Subsequent family affected family members had no extra renal symptoms.
Family A: Laboratory tests revealed nephrotic syndrome and reduced alpha-galactosidase activity (0.5 μKat/kg of protein).
Family B: The 20-year-old patient had a significant proteinuria (2.6 g/24 hours) and impaired renal function (serum creatinine: 111 μmol/L; eGFR: 75.1 mL/minute and reduced alpha-galactosidase activity. The younger sibling had been receiving ERT and initially exhibited normal renal function (serum creatinine: 86 μmol/L; eGFR: 77.4 mL/minute) but developed proteinuria (positive at 4 years).
Family C: The 25-year-old patient presented a renal function caraterized hyperfiltration (serum creatinine: 53 μmol/L; eGFR: 127 mL/minute) and positive proteinuria (1.3 g/24 hours). The two other members presented a normal renal function with negative proteinuria.
Family screening approach: Although several family members were diagnosed following the identification of index cases, no formal cascade genetic screening or structured genetic counseling protocol was implemented. Instead, family investigations were conducted in an informal, case-by-case manner based on clinical suspicion or incidental findings during follow-up. This reflects the limitations in access to genetic services and specialized counseling in our setting.
Renal involvement in FD.
Enzyme replacement therapy was not initiated in this patient due to late diagnosis at an advanced stage of chronic kidney disease (eGFR 23.7 mL/minute). ERT is less effective in patients with significant renal fibrosis or end-stage kidney disease and was therefore not considered.
The patient received enzyme replacement therapy with agalsidase beta at a dose of 1.0 mg/kg every two weeks, started shortly after diagnosis and maintained for approximately 9 years. His brother, was started early on enzyme replacement therapy with agalsidase beta (1.0 mg/kg biweekly) and maintained treatment for 4 years. He also received a maximal dose of RAS blockers.
He was started on enzyme replacement therapy with agalsidase, at the standard dose of 1.0 mg/kg biweekly and ACE inhibitors. Treatment was ongoing at the time of follow-up (2 years). Both siblings received ERT with agalsidase beta (1.0 mg/kg biweekly) following their identification through family screening.
The patient was managed with supportive nephrological care and progressed to hemodialysis within one year.
The patient’s renal function progressively deteriorated. By the age of 29 years, he had reached ESRD and required maintenance dialysis. The younger brother, He also received a maximal dose of RAS blockers. Early initiation of ERT contributed to preservation of renal function and significant reduction of proteinuria over time.
With stable kidney function and no further cardiovascular events reported. The 23-year-old male showed stable renal function after 3 years of treatment. The 16-year-old female had no clinical signs but began ERT preemptively to prevent disease progression, in line with recommendations for asymptomatic carriers with early renal involvement such as hyperfiltration.
FD is a rare genetic disorder affecting sphingolipid metabolism[1]. It is considered the most common lysosomal storage disorder among more than 50 identified genetic lysosomal diseases[2]. The incidence of FD ranges between 1 in 100000 and 1 in 500000 individuals[1].
The underlying mechanism involves a pathogenic mutation in the GLA gene, which encodes the alpha-galactosidase A enzyme[3]. This leads to deficient enzymatic activity and progressive accumulation of undegraded glycosphingolipids within lysosomes of endothelial, epithelial, and smooth muscle cells[4,5].
Since alpha-galactosidase A is ubiquitously expressed, Gb3 deposits accumulate in nearly all organs, making FD a multisystemic disease with a wide spectrum of clinical manifestations. Diagnosis is often based on clusters of characteristic signs, and confirmed by enzymatic assay in peripheral leukocytes showing reduced or absent alpha-galactosidase activity[3,6]. However, in some female patients, enzymatic levels may remain within the normal range, underscoring the importance of genetic testing in such cases[7].
The severity and onset of symptoms depend largely on residual enzyme activity. Female heterozygotes may retain partial alpha-galactosidase function, often resulting in a milder or later-onset phenotype compared to affected males[2,3,8]. Additionally, both age and mutation type influence phenotypic variability, with more severe forms typically presenting earlier[1].
Classic signs-angiokeratomas, cornea verticillata, anhidrosis, neuropathic pain, and acroparesthesia-generally appear in childhood[1,9]. In contrast, serious organ involvement such as renal impairment, white matter lesions, stroke, left ventricular hypertrophy, and arrhythmias typically emerge in the second or third decade of life[1,10].
Renal dysfunction is a major contributor to FD-related morbidity and mortality[4,11]. It ranks third among FD-related causes of death after cardiac and cerebrovascular complications. Fabry nephropathy involves Gb3 accumulation in multiple renal cell types, including podocytes, mesangial cells, endothelial cells, and tubular epithelium[12], which exp
Proteinuria results from glomerular injury driven by proinflammatory and profibrotic processes triggered by Gb3 accumulation[15]. While nephrotic syndrome is rare, hypertension is frequently observed in uremic stages[1,14]. In addition to glomerular damage, tubular dysfunction may also occur, though less commonly[3,16], and may present as Fanconi syndrome or distal renal tubular acidosis. Some patients may also experience early concentrating defects, manifesting as isosthenuria or hyposthenuria, due to involvement of Henle’s loop and collecting ducts[17].
Another diagnostic clue is the presence of parapelvic cysts in patients with unexplained renal impairment, which should raise suspicion for FD[3].
The pathophysiological mechanisms underlying Fabry nephropathy extend beyond simple Gb3 accumulation. Glycosphingolipid deposition, particularly in podocytes, endothelial cells, and tubular epithelium, induces a cascade of inflammatory and fibrotic processes. Gb3 accumulation activates pro-inflammatory cytokines such as tumor necrosis factor alpha and interleukin-6, promotes oxidative stress, and triggers mesangial expansion and extracellular matrix deposition, all contributing to progressive glomerulosclerosis. Podocyte injury is particularly significant, as it leads to loss of slit diaphragm integrity and proteinuria. These changes mirror the pathogenesis of diabetic nephropathy. Several studies have reported the impact of FD on renal outcomes and dialysis prognosis[18-24].
Tøndel et al[21] demonstrated that early initiation of ERT could partially reverse podocyte vacuolization and slow histological progression, highlighting the importance of timely intervention. However, in advanced disease stages, irreversible fibrotic changes reduce ERT efficacy.
Compared to other nephropathies, Fabry nephropathy progresses more rapidly. Without treatment, annual GFR decline is estimated at 12.2 mL/minute, whereas it averages 4 mL/minute in other chronic kidney diseases[1,8]. Furthermore, patients on dialysis have worse outcomes, with shorter life expectancy and greater morbidity due to cardiovascular events and stroke[3,18].
Recent European guidelines published by the Fabry Disease Working Group in 2023 recommend ERT for all symptomatic males with classical FD, and for females or asymptomatic individuals with early signs of organ involvement, such as hyperfiltration or microalbuminuria[25]. ERT is not routinely advised in patients with advanced renal disease (eGFR < 30 mL/minute/1.73 m2) or overt proteinuria > 1 g/day unless extra-renal manifestations are present, due to limited therapeutic benefit at that stage[25,26]. These updated recommendations support our decision not to initiate ERT in one patient with late-stage renal dysfunction at diagnosis. Moreover, early initiation of ERT has been shown to slow progression of glomerular damage, reduce podocyte vacuolization, and improve renal histology, particularly when started before overt proteinuria or fibrosis develops[21].
Specific therapy for FD is crucial, given the life-threatening complications and rapid disease progression. Two forms of ERT are currently available: Agalsidase alfa (0.2 mg/kg biweekly) and agalsidase beta (1.0 mg/kg biweekly)[2,7]. ERT aims to prevent further Gb3 accumulation and facilitate clearance of existing intracellular deposits[3,19,20]. Tøndel et al[21] demonstrated that ERT can eliminate endothelial and mesangial inclusions and reduce podocyte involvement after five years of treatment.
Progression to ESRD in some treated patients may reflect delayed ERT initiation or advanced histological damage at the time of treatment onset, including interstitial fibrosis and glomerulosclerosis, which are less responsive to enzyme therapy.
In our series, in contrast to the 12.2 mL/minute/year decline in eGFR observed in untreated FD patients, our early-treated cases showed stable renal function over several years, supporting the protective effect of early ERT.
However, ERT is less effective in the presence of irreversible organ damage, particularly in advanced renal or cardiac involvement[2]. The European Best Practice Guidelines do not recommend initiating ERT in patients with eGFR < 60 mL/minute/1.73 m2 or proteinuria > 1 g/day unless extra-renal manifestations are present[3,21].
Management of renal disease in FD also involves non-specific measures such as blood pressure control and proteinuria reduction using ACE inhibitors or angiotensin receptor blockers[2,3,6]. Antiplatelet therapy may also be beneficial, as FD increases thromboembolic risk via platelet activation[1].
Chronic kidney disease-related complications, including anemia and mineral-bone disorders, should be managed according to standard nephrology guidelines[1]. ERT should not be discontinued in dialysis patients, since recombinant enzymes are not removed by hemodialysis filters[13].
A newer oral therapy, migalastat, acts as a pharmacological chaperone that stabilizes specific mutant forms of alpha-galactosidase A and restores enzyme function in lysosomes[2,4].
In ESRD, kidney transplantation remains a viable treatment option and is even proposed as first-line therapy by some authors[3]. Transplantation not only restores renal function and normalizes urinary alpha-galactosidase levels, but may also improve extrarenal symptoms like anhidrosis and neuropathic pain[13,22], possibly due to improved systemic enzyme activity[23]. Graft and patient survival rates after kidney transplantation in FD are comparable to the general population[24].
These findings highlight the diagnostic challenges in Tunisia, where access to genetic testing and renal biopsy remains limited. The lack of structured family screening programs contributes to delayed diagnoses, underscoring the need for targeted screening strategies in low-resource settings.
This case series highlights the clinical heterogeneity and diagnostic complexity of FD, particularly in resource-limited settings. Renal involvement may precede or remain silent for years, making early diagnosis challenging yet critical. Our findings support the value of family screening, even in the absence of formal genetic programs, and emphasize the prognostic benefit of early enzyme replacement therapy. Patients diagnosed and treated early demonstrated stable renal function and improved proteinuria, whereas delayed intervention led to irreversible renal damage. Integrating histopathological findings with biochemical and genetic testing remains essential to optimize management. In low-resource environments, strengthening awareness and implementing targeted screening strategies could improve Fabry nephropathy outcomes and delay progression to end-stage kidney disease.
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