ArticleIrish journal of medical science2014
Coexistence of Fabry disease and IgA nephropathy: a report of two cases.
Article in Irish journal of medical science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.BMC nephrology · 2023Review
- Multidisciplinary Management of Fabry Disease: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.Pediatric rheumatology online journal · 2021Article
- IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report.The Journal of international medical research · 2020Article
- Fabry disease and immunoglobulin A nephropathy presenting with Alport syndrome-like findings: A case report.Medicine · 2019Article
- Why, when and how should immunosuppressive therapy considered in patients with immunoglobulin A nephropathy?Clinical and experimental immunology · 2016Review
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5 authors at 1 institution in 1 country.
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Abstract
backgroundCoexistence of Fabry disease and IgA nephropathy is rare. Moreover, the coexisting Fabry disease may be unrecognized due to unapparent clinical manifestations.
methodWe described two cases with coexisting Fabry disease and IgA nephropathy. The clinicopathological features of these two patients were studied.
resultsA 54-year-old male presented with proteinuria, hematuria, and hypertension, and a 33-year-old male presented with proteinuria without clinical signs or family history of Fabry disease. Both of them were diagnosed with IgA nephropathy at admission, whereas Fabry disease was not suspected. Subsequent immunofluorescent study confirmed the diagnosis of IgA nephropathy by showing positive staining for IgA and complement C3 in the mesangium. Meanwhile, light microscopy showed remarkable vacuolation of podocytes with mild mesangial expansion, which was characteristic of Fabry nephropathy. Further examination of toluidine blue-stained semi-thin sections and electron microscopy demonstrated blue bodies and myelin figures in the cytoplasm of podocytes, respectively. The diagnosis of coexisting Fabry disease was finally established based on deficient α-galactosidase A activity in both patients.
conclusionThis case study is an important reminder of the role of kidney biopsy as an indicator of Fabry disease and its rare coexistence with IgA nephropathy.
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