Podocyturia is significantly elevated in untreated vs treated Fabry adult patients

Trimarchi, Hernán; Canzonieri, Romina; Schiel, Amalia; Politei, Juan; Stern, Aníbal; Andrews, J. Matthew; Paulero, Matías; Rengel, Tatiana; Aráoz, Alicia; Forrester, Mariano; Lombi, Fernando; Pomeranz, Vanesa; Iriarte, Romina; Young, Pablo; Muryan, Alexis; Zotta, Elsa

doi:10.1007/s40620-016-0271-z

Cited by 45 publications

(55 citation statements)

References 39 publications

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“…Trimarchi et al . reported greater podocyturia in ERT-naive adult Fabry patients compared to those on ERT; [15] however, the ERT-naïve patients in this study had lower proteinuria and higher GFR than those receiving ERT, indicative of less severe nephropathy in the ERT-naïve patients. In contrast, in the current study, where ERT-naïve and ERT-receiving patients were not different in age, proteinuria, albuminuria or eGFR and thus had more comparable nephropathy, there was no statistical difference in podocyturia between the groups.…”

Section: Discussionmentioning

confidence: 61%

“…found increased podocyturia in Fabry patients, but with no correlation between urine podocyte density and either proteinuria or eGFR. [15] In contrast, Pereira et al found correlation between podocyturia and UACR in Fabry patients. [22] The findings of the current study are consistent with Pereira et al with direct correlations between podocyturia and proteinuria in both male and female patients.…”

Section: Discussionmentioning

confidence: 98%

“…[3] We previously showed that in young Fabry patients, podocyte GL-3 accumulation is progressive with age[3] and associated with foot process widening, consistent with podocyte injury, and both of these morphometrically measured electron microscopy parameters correlate with UACR. While quantitative measurements in biopsies such as reduced number of podocytes per glomerulus, foot process widening or podocyte detachment,[19, 20] are robust structural evidences of podocyte injury, podocyturia is a non-invasive indicator of podocyte loss Podocyturia in Fabry patients has been reported by others;[15, 21–23]. Selvarajah et al reported PCX+ cells ( i .…”

Section: Discussionmentioning

confidence: 99%

“…[11–14]. It is therefore likely that podocyturia in Fabry disease antedates and may well lead to proteinuria[15], glomerulosclerosis and reduced GFR. If true, podocyturia may be useful to predict the risk of Fabry nephropathy and guide treatment strategies.…”

Section: Introductionmentioning

confidence: 99%

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Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

et al. 2016

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Chronic kidney disease is a major complication of Fabry disease. Podocytes accumulate globotriaosylceramide inclusions more than other kidney cell types in Fabry patients. Podocyte injury occurs early in age, and is progressive. Since injured podocytes detach into the urine (podocyturia), we hypothesized that podocyturia would increase in Fabry patients and correlate with clinical severity of Fabry nephropathy. Urine specimens from 39 Fabry patients and 24 healthy subjects were evaluated for podocyturia. Most of the Fabry patients and many healthy subjects had podocyturia. The number of podocytes per gram of urine creatinine (UPodo/g Cr) was 3.6 fold greater in Fabry patients (3,741 ± 2796; p = 0.001) than healthy subjects (1,040 ± 972). Fabry patients with normoalbuminuria and normoproteinuria had over 2-fold greater UPodo/g Cr than healthy subjects (p = 0.048). UPodo/gCr was inversely related to eGFR in male patients (r = -0.69, p = 0.003). UPodo/gCr was directly related to urine protein creatinine ratio (r = 0.33; p = 0.04) in all Fabry patients. These studies confirm increased podocyturia in Fabry disease, even when proteinuria and albuminuria are absent. Podocyturia correlates with clinical severity of Fabry nephropathy, and potentially may be of prognostic value.

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Section: Discussionmentioning

confidence: 61%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

et al. 2016

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“…The main manifestations are pathological albuminuria and decreased GFR, although tubular dysfunction may also occur [29]. Moreover, podocyturia, a biomarker suggestive of early kidney involvement, is elevated in FD patients [30,31]. According to studies from the Fabry Registry and the Fabry Outcome Survey, kidney involvement is usually less severe and later among female patients, as observed for other organs [25,32].…”

Section: Discussionmentioning

confidence: 99%

A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

Veloso¹,

Ataides²,

Canziani³

et al. 2017

Nephron

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Background/Aims: Fabry disease (FD), an X-linked lysosomal storage disorder, leads to accumulation of globotriaosylceramide. Screening in dialysis patients may identify genetic variants of unknown clinical significance. We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. Methods: One out of 108 male hemodialysis patients screened for FD presented low α-galactosidase A activity. A novel missense mutation (p.G35V) in the GLA gene was detected. Family screening identified 11 additional cases (8 women). Clinical investigation was conducted in 10 patients (index case and 9 relatives). Pathogenicity of the new mutation was investigated by clinical and laboratory tests, cardiac and cranial magnetic resonance imaging, and kidney biopsy. Results: Cardiac manifestations were detected in most patient from both genders, such as left ventricular hypertrophy and short PR interval. White matter lesion was present in 3 women. Pulvinar lesion of the thalamus and ischemic stroke were detected in male patients. Abnormal glomerular filtration rate (GFR) and/or albuminuria were present in 5 patients (3 women). Renal biopsies (n = 7) revealed globotriaosylceramide deposits in different cell types and foot processes effacement in all patients, including women with normal albuminuria. Despite a normal GFR, tubulointerstitial fibrosis ranging from 5 to 20% was present in young women and men with normal or high albuminuria, respectively. Conclusion: The novel missense mutation p.G35V leads to severe systemic manifestations of FD in men and women. Kidney histological changes, including tubulointerstitial fibrosis, may predate albuminuria and GFR changes in adult women. Novel non-invasive markers are required for early detection of Fabry nephropathy.

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Fabry Nephropathy

Vaisbich

Andrade

Silva³

et al. 2023

Amyloidosis and Fabry Disease

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Podocyturia is significantly elevated in untreated vs treated Fabry adult patients

Cited by 45 publications

References 39 publications

Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

Fabry Nephropathy

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