A Case of FSGS Diagnosis Through Kidney Biopsy

Introduction

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a prevalent genetic disorder, affecting approximately 6% of kidney failure cases. While proteinuria is uncommon in ADPKD, significant proteinuria warrants further investigation to exclude coexisting glomerular diseases. This case highlights the challenges and diagnostic approach to a patient with ADPKD and nephrotic-range proteinuria.

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Case Summary

A middle-aged male with ADPKD presented with nephrotic-range proteinuria. Despite the presence of bilateral renal cysts, an ultrasound-guided kidney biopsy was performed, revealing Focal Segmental Glomerulosclerosis (FSGS) as a secondary pathology. Genetic testing identified a variant of uncertain significance in PKD1, underlining the complexities of genetic evaluation in ADPKD cases.

Key Findings:

ADPKD & Proteinuria: While ADPKD typically does not present with significant proteinuria, cases above 2g/day require further evaluation.
Kidney Biopsy Feasibility: Despite concerns, ultrasound-guided renal biopsy was successfully performed in this patient.
FSGS Diagnosis: The glomerular damage was likely due to hyperfiltration stress caused by cystic burden.
Genetic Testing in ADPKD: Variants in PKD1 & PKHD1 genes were identified, though their significance remains uncertain.

Clinical Implications & Future Directions

• Diagnostic Workup: Patients with ADPKD and unexplained proteinuria should undergo a thorough diagnostic workup to rule out secondary glomerular diseases.
• Biopsy Consideration: With careful patient selection, renal biopsy can be safe and valuable in ADPKD cases.
• Role of Genetic Testing: While genetic analysis aids in diagnosis, variants of uncertain significance highlight the need for further research.

Read the full study at DOI: 10.29328/journal.jcn.1001118.

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