Interpretative Challenges of Variants of Uncertain Significance in FSGS

A 21-year-old woman's case of severe, treatment-refractory focal segmental glomerulosclerosis illustrates the clinical complexities of genomic testing. The PDF document, published by figshare admin karger under CC-BY-4.0, details a patient with persistent nephrotic-range proteinuria and severe hypoalbuminemia. It highlights the challenges posed by heterozygous variants of uncertain significance in ARHGAP24 and NUP133.

Use Cases

• Analyze clinical-genetic correlation challenges based on the detailed case presentation of steroid-resistant nephrotic syndrome.
• Study the risk of misclassification in monogenic disease based on the discussion of variants of uncertain significance.
• Review complications of nephrotic hypercoagulability based on described thromboembolic events like deep vein thrombosis and ischemic stroke.

Strengths

• 1.2 MB PDF file provides a detailed clinical narrative.
• License CC-BY-4.0 allows for broad reuse and sharing.
• Case includes specific genetic variants (ARHGAP24 and NUP33) and a range of clinical complications.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The data is a single case report, limiting statistical analysis.

Provenance

Source

figshare admin karger

Freshness

Last updated 2026-05-09 07:55:26; freshness should be verified.