Rare Case of Dense Deposition Disease with Combined C3 and C4d Deposits in a Patient with MYH9 Mutation

Introduction

Dense Deposition Disease (DDD) is a rare form of glomerulonephritis caused by dysregulation of the complement system. This case presents a young Emirati male diagnosed with DDD, featuring both C3 and C4d deposits—a rare occurrence. Adding to the uniqueness of this case, the patient also exhibited an MYH9 gene mutation.

Case Summary

A 26-year-old Emirati male was evaluated for sub-nephrotic proteinuria and microscopic hematuria. A renal biopsy confirmed DDD with C3 and C4d deposits, indicating the involvement of both classical and alternative complement pathways. Further genomic analysis identified a heterozygous MYH9 mutation, though without typical extrarenal manifestations.

Key Findings

• Histopathology: Electron microscopy revealed dense intramembranous deposits within the glomerular basement membrane, characteristic of DDD.
• Complement Analysis: Immunofluorescence detected both C3 and C4d deposits, suggesting a unique pathophysiology.
• Genetic Findings: MYH9 mutation was present, although its direct role in DDD remains uncertain.

Implications in Nephrology

The presence of both C3 and C4d deposits in DDD suggests an overlap between classical and alternative complement pathways. Understanding such cases can guide precision-based treatment strategies, including complement inhibition therapies.

Further Reading

Explore similar groundbreaking nephrology cases at Journal of Clinical Nephrology.

Call to Action

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