The Common Collagen of Alport Syndrome and Arthritis: A Case Report and Review of Pathophysiology.

AIM: Through the lens of a clinical case, we explore the overlap in pathophysiology between Alport syndrome and seronegative inflammatory arthritis, focusing on the collagen structural changes that can occur in Alport syndrome.

RESULTS

Genetic variant information was obtained for a patient diagnosed with Alport syndrome. Few cases of Alport syndrome associated with inflammatory arthritis have been reported in the literature so far. The genes encoding collagen fibrils affected in Alport syndrome are also expressed in hyaline cartilage. The inflammatory response triggered by these misfolded, truncated, or missing proteins may contribute to inflammatory pathways present in arthritis through compromised collagen structures.

CLINICAL TAKEAWAY: Evaluation of hematuria and concomitant inflammatory arthritis should include consideration of hereditary connective tissue disorders, such as Alport syndrome.