Recurrent C3 Glomerulonephritis with an ADAMTS 13 Gene Variant: A Case Report and Literature Review

Area of Science:

• Nephrology
• Complement System Immunology
• Genetics

Background:

• C3 glomerulonephritis (C3GN) is a rare kidney disease caused by alternative complement pathway dysregulation.
• While dense deposit disease shows high recurrence post-transplant, C3GN recurrence rates are less understood.
• C3GN primarily affects pediatric and young adult populations.

Observation:

• A 28-year-old male with end-stage renal disease due to C3GN received a kidney transplant.
• Recurrent C3GN (rC3GN) developed 19 months post-transplant.
• The recurrence was associated with a variant of unknown significance in the ADAMTS13 gene.

Findings:

• The patient experienced rapid graft dysfunction requiring renal replacement therapy.
• This case presents the first instance of rC3GN potentially linked to a genetic alteration, specifically an ADAMTS13 variant.
• The identified ADAMTS13 variant's role in C3GN pathogenesis requires further investigation.

Implications:

• This case highlights the possibility of C3GN recurrence in adult kidney transplant recipients.
• It suggests a potential genetic predisposition or contributing factor to C3GN recurrence.
• Further research is needed to explore the relationship between ADAMTS13 variants and C3GN, informing future diagnostic and therapeutic strategies.