ArticlePediatric nephrology (Berlin, Germany)2010
A case of minimal change disease in a Fabry patient.
Article in Pediatric nephrology (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype.Molecular genetics & genomic medicine · 2024Article
- The unlikely combination: Anderson-Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient.Clinical case reports · 2024Article
- Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.BMC nephrology · 2023Review
- Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.Renal failure · 2020Article
- Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR).Frontiers in neurology · 2020Article
- Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.BMC nephrology · 2019Review
- Initially Nondiagnosed Fabry's Disease when Electron Microscopy Is Lacking: The Continuing Story of Focal and Segmental Glomerulosclerosis.Case reports in nephrology and urology · 2013Article
- 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
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the GLA gene and deficiency in alpha-galactosidase A activity. Glycosphingolipids accumulation causes renal injury that manifests early during childhood as tubular dysfunction and later in adulthood as proteinuria and renal insufficiency. Nephrotic syndrome as the first evidence of Fabry-related kidney damage is rare. We report the case of a teenager with known Fabry disease and normal renal function who developed acute nephrotic syndrome. He was found to have typical glycosphingolipids accumulation with no other findings suggestive of alternative causes of nephrotic syndrome on kidney biopsy. After treatment with enzyme replacement therapy and oral steroids, he went into complete remission from nephrotic syndrome, a response that is atypical for Fabry disease patients who develop heavy proteinuria as a result of longstanding disease and chronic renal injury. The nephrotic syndrome in this patient appears to have developed secondary to minimal change disease. We recommend considering immunotherapy in addition to enzyme replacement therapy in those patients with confirmed Fabry disease and acute nephrotic syndrome with clinical and microscopic findings suggestive of minimal change disease.
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