Abstract: FR-PO0723
A Rare Case of Rapidly Progressive Kidney Failure in Alport Syndrome with Crescents
Session Information
- Pediatric Nephrology: CKD, ESKD, and Glomerular Diseases
November 07, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Pediatric Nephrology
- 1900 Pediatric Nephrology
Authors
- Salcedo-Giraldo, Jordy, Children's National Hospital, Washington, District of Columbia, United States
- Kwon, Donghyang, Georgetown University, Washington, District of Columbia, United States
- Ahn, Sun-Young, Children's National Hospital, Washington, District of Columbia, United States
Introduction
Alport syndrome (AS) is a hereditary nephropathy caused by mutations in type IV collagen. Crescentic glomerulonephritis with rapid progression to end-stage kidney disease (ESKD) in patients with AS is extremely rare and scarcely described in the literature.
Case Description
An 18-year-old male presented with acute periorbital swelling and nephrotic-range proteinuria. Initial labs showed urine protein/creatinine (Cr) ratio 8.29, albumin 2.6 g/dL, and Cr 1.12 mg/dL. Despite high-dose steroids, his proteinuria did not improve. A kidney biopsy revealed proliferative glomerulonephritis, rare mesangial immune-complex deposits, and glomerular basement membrane (GBM) thinning/splitting, concerning for IgA nephropathy versus AS. Chronicity at the time of the biopsy was mild. Tissue for immunofluorescence (IF) was inadequate to confirm IgA immune deposition. Subsequent IF analysis on paraffin tissue was negative for IgA. AS was confirmed by genetic testing that showed a novel likely pathogenic X-linked variant of COL4A5(p.Gly144Cys). Despite treatment with lisinopril and an SGLT2 inhibitor, kidney function began to rapidly decline over several months. A second biopsy one year later demonstrated significant progression with 30% cellular crescents, glomerulosclerosis, and severe chronic tubulointerstitial disease (Fig. 1). ANA, ANCA, anti-GBM antibodies, and complement studies were normal. The patient’s BUN and Cr rose to 112 mg/dL and 7.22 mg/dl, respectively, ultimately requiring initiation of chronic hemodialysis.
Discussion
This case highlights an atypical presentation of AS with crescentic features and unusually rapid decline to ESKD, despite appropriate therapy. While AS is usually characterized by a steady progression to kidney failure without immune deposits, crescentic transformation may portend more aggressive disease. Follow-up biopsy comparison underscores the rapid evolution and challenges in management. Awareness of the variable phenotypes and progression of AS is critical, as closer monitoring and alternative therapies may be warranted for some patients.