ArticlePediatric nephrology (Berlin, Germany)2006
IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.
Article in Pediatric nephrology (Berlin, Germany), 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 35 citations in OpenAlex.
- Urinary complement proteins in IgA nephropathy progression from a relative quantitative proteomic analysis.PeerJ · 2023Article
- Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus.Archives of rheumatology · 2020Article
- Fabry disease and immunoglobulin A nephropathy presenting with Alport syndrome-like findings: A case report.Medicine · 2019Article
- Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease.Scientific reports · 2018Article
- Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis.Biochimica et biophysica acta · 2016Article
- Fabry disease previously diagnosed as Henoch-Schonlein purpura.The Korean journal of internal medicine · 2015Article
- Article
- Lysosome dysfunction in the pathogenesis of kidney diseases.Pediatric nephrology (Berlin, Germany) · 2014Review
- Coexistence of Fabry disease and IgA nephropathy: a report of two cases.Irish journal of medical science · 2014Article
- The coincidence of IgA nephropathy and Fabry disease.BMC nephrology · 2013Article
- Is there a pathogenic association between Fabry's disease and IgA nephropathy?Clinical nephrology. Case studies · 2013Article
- Article
- Leukocyte perturbation associated with Fabry disease.Journal of inherited metabolic disease · 2009Article
- Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy.Virchows Archiv : an international journal of pathology · 2008Article
- Agalsidase alfa (Replagal) in the treatment of Anderson-Fabry disease.Biologics : targets & therapy · 2007Article
- High incidence of autoantibodies in Fabry disease patients.Journal of inherited metabolic disease · 2007Article
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Authors and funding
9 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
We report a 16-year-old girl and her one-year-younger sister, both heterozygous for the c.34del24 mutation of the GLA (alpha-galactosidase A) gene, which they inherited from their father who is affected by Fabry disease (FD). Both girls presented with macrohematuria and rapidly progressing proteinuria. Urine analysis revealed glomerular hematuria and a nephrotic range of proteinuria suggesting a concomitant glomerulonephritis. Light microscopy of kidney biopsy was characteristic of IgA nephropathy (IgA deposits in mesangial areas and glomerular capillary loops, and mesangial hypercellularity), whereas electron microscopy showed changes typical of Fabry disease (multiple osmiophilic inclusions in the subendothelial and mesangial areas). These two cases and similar reports in the literature suggest that IgA nephropathy in FD is not merely coincidental.
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