ArticleClinical kidney journal2023
Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.
Article in Clinical kidney journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea.Journal of clinical medicine · 2025Review
- Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?Pediatric nephrology (Berlin, Germany) · 2024Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The cause of chronic kidney disease (CKD) remains unknown in ∼20% of patients with kidney failure. Massively parallel sequencing (MPS) can be a valuable diagnostic tool in patients with unexplained CKD, with a diagnostic yield of 12%-56%. Here, we report the use of MPS to establish a genetic diagnosis in a 24-year-old index patient who presented with hypertension, nephrotic-range proteinuria and kidney failure of unknown origin. Additionally, we describe a second family with the same mutation presenting with early-onset CKD. Results: In Family 1, MPS identified a known pathogenic variant in Conclusion: These findings highlight the large phenotypic heterogeneity associated with
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