ArticlePloS one2014
Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02994303 (Podocyturia, a Non-Invasive Predictor of Renal Dysfunction in Fabry Nephropathy), which is not on this map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Podocyturia, a Non-Invasive Predictor of Renal Dysfunction in Fabry Nephropathy
Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease.PloS one · 2016Trial
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- The Role of Kidney Biopsy in Fabry Disease.Biomedicines · 2025Review
- The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease.BMC nephrology · 2025Article
- Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs.Frontiers in cardiovascular medicine · 2025Review
- Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases.Kidney international · 2024Article
- Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.Kidney international · 2022Article
- The Impact of Kidney Biopsy for Fabry Nephropathy Evaluation on Patients' Management and Long-Term Outcomes: Experience of a Single Center.Biomedicines · 2022Article
- Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.Frontiers in pediatrics · 2022Review
- Pathology and pathogenic pathways in fabry nephropathy.Clinical and experimental nephrology · 2021Review
- Renal Manifestations of Fabry Disease: A Narrative Review.Canadian journal of kidney health and disease · 2021Review
- MALDI imaging in Fabry nephropathy: a multicenter study.Journal of nephrology · 2020Article
- Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.Journal of the American Society of Nephrology : JASN · 2020Article
- A curious case of de novo anti-HLA-C antibody-mediated humoral rejection and Fabry-like zebra bodies in a renal transplant recipient.Clinical nephrology. Case studies · 2020Article
- Migalastat: A Review in Fabry Disease.Drugs · 2019Review
- Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.Journal of the American Society of Nephrology : JASN · 2017Article
- Podocyturia is significantly elevated in untreated vs treated Fabry adult patients.Journal of nephrology · 2016Observational
- Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy.PloS one · 2016Article
- Recommendations for the diagnosis and management of Fabry disease in pediatric patients: a document from the Rare Diseases Committee of the Brazilian Society of Nephrology (Comdora-SBN).Jornal brasileiro de nefrologiaReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundFabry disease. an X-linked deficiency of α-galactosidase A coded by the GLA gene, leads to intracellular globotriaosylceramide (GL-3) accumulation. Although less common than in males, chronic kidney disease, occurs in ∼ 15% of females. Recent studies highlight the importance of podocyte injury in Fabry nephropathy development and progression. We hypothesized that the greater the % of podocytes with active wild-type GLA gene (due to X-inactivation of the mutant copy) the less is the overall podocyte injury.
methodsKidney biopsies from 12 treatment-naive females with Fabry disease, ages 15 (8-63), median [range], years were studied by electron microscopy and compared with 4 treatment-naive male patients.
resultsIn females, 51 (13-100)% of podocytes (PC) per glomerulus had no GL-3 inclusions, this consistent with a non-Fabry podocyte phenotype (NFPC). In PC with GL-3 inclusions [Fabry podocyte phenotype (FPC)], GL-3 volume density per podocyte was virtually identical in females and males, consistent with little or no cross-correction between FPC and NFPC. %NFPC per glomerulus (%NFPC/glom) correlated with age in females (r = 0.65, p = 0.02), suggesting a survival disadvantage for FPC over time. Age-adjusted %NFPC/glom was inversely related to foot process width (FPW) (r = -0.75, p = 0.007), an indicator of PC injury. GL-3 volume density in FPC in females correlated directly with FPW.
conclusionsThese findings support important relationships between podocyte mosaicism and podocyte injury in female Fabry patients. Kidney biopsy, by providing information about podocyte mosaicism, may help to stratify females with Fabry disease for kidney disease risk and to guide treatment decisions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.