MO026: IgA-nephropathy in Alport syndrome patients: one center data

Abstract

Abstract BACKGROUND AND AIMS The association between Alport syndrome (AS) and IgA-nephropathy (IgAN) recently shown suggests that the abnormal glomerular basement membrane (GBM) resulting from the pathogenic COL4A3/A4/A5 variants may predispose to immune-mediated injury. The aim of study was to identify the frequency of IgAN in children with AS. METHOD We analyzed the morphological (light, immunofluorescence, electron microscopy), clinical [sensorineural deafness (SND)], laboratory [eGFR, proteinuria (Pr)] data of 102 children (12 ± 4 years at biopsy) with AS observed in nephrology department since 1993. AS was confirmed by next-generation sequencing (NGS) based genetic tests in 65 points (q = 0.64). The IgAN was diagnosed by the presence of glomerular proliferative lesions with predominant IgA immunofluorescence and electron dense deposits in the mesangial area. RESULTS IgAN was revealed in 3 points (q = 0.03) with AS (Table 1) and presented by acute development of steroid-resistant nephrotic syndrome (SRNS) (one case) and nephrotic proteinuria in top of gross hematuria (2 points). Immunosuppressive treatment led to complete SRNS remission and was ineffective in one child. CONCLUSION IgAN was revealed in 3% of our points with AS and probably led to serious disease flare-ups in these points. Immunosuppression treatment was effective in children with IgA-related SRNS.