ArticlePediatric nephrology (Berlin, Germany)2018
Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
Article in Pediatric nephrology (Berlin, Germany), 2018. 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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8 citing papers in PubMed, 16 citations in OpenAlex.
- Inflammatory cytokine expression in Fabry disease: impact of disease phenotype and alterations under enzyme replacement therapy.Frontiers in immunology · 2024Article
- Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.Frontiers in pediatrics · 2023Article
- Review
- α-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes.International journal of molecular sciences · 2021Article
- Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis.ESC heart failure · 2020Article
- Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.Clinical genetics · 2019Article
- 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
21 authors at 6 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency. We present clinical, biochemical, and histologic findings in children with classical phenotypic presentation of Fabry disease.
methodsA retrospective analysis was performed using charts from 14 children with confirmed diagnosis. Clinical parameters were evaluated. Globotriaosylsphingosine -lysoGb3- detection in plasma, podocyturia, and kidney biopsy were carried out in all cases.
resultsAll patients except one demonstrated at least one symptom of Fabry disease. LysoGb3 levels were above the normal range in all patients. Podocyturia was documented in all patients. Kidney biopsy revealed glomerular, interstitial, vascular, and tubular changes on light microscopy in nearly all patients. Electron microscopy showed podocyte inclusions in all patients.
conclusionsNo difference in symptomatology was discernible between boys and girls. Podocyturia was detectable in children serving as a possible early marker of kidney injury. LysoGb3 was elevated in all cases, emphasizing the importance for diagnosis especially in female patients with normal αGal A activity. A possible association between lysoGb3 and symptom severity and histological involvement in kidney biopsy should be assessed in prospective studies with enough statistical power to determine if lysoGb3 can be used to predict nephropathy in children with Fabry disease.
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