Mazzierli Tommaso, Gallo Pamela, Giuliani Costanza, Pelo Elisabetta, Dattolo Pietro, Somma Chiara
Department of Nephrology and Dialysis, Santa Maria Annunziata Hospital, Florence, Italy.
Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy.
Nephrology (Carlton). 2025 Jul;30(7):e70092. doi: 10.1111/nep.70092.
Complement system (CS) overactivation is one of the main causes of kidney damage in IgA nephropathy (IgAN), and it mainly involves the alternative pathway (AP). Additionally, pathogenic complement variants in CS-related genes are reported in IgAN with associated thrombotic microangiopathy (TMA). Here we report two patients with IgAN presenting membranoproliferative pattern, isolated C3 hypocomplementemia, resistance to multiple lines of immunosuppressive therapy, familiarity for proteinuric chronic kidney disease and pathogenic rare variants in cofactor I (CFI). To the best of our knowledge, no other cases of IgAN patients with a similar phenotype and genotype were previously reported in the literature. This work highlights the essential role of deep phenotyping and genotyping in providing tailored treatment strategies in IgAN patients.
补体系统（CS）过度激活是IgA肾病（IgAN）肾损伤的主要原因之一，且主要涉及替代途径（AP）。此外，在伴有血栓性微血管病（TMA）的IgAN中，报道了CS相关基因中的致病性补体变异。在此，我们报告了两名呈现膜增生性模式、孤立性C3低补体血症、对多种免疫抑制治疗耐药、家族性蛋白尿慢性肾病且辅因子I（CFI）存在致病性罕见变异的IgAN患者。据我们所知，此前文献中未报道过其他具有类似表型和基因型的IgAN病例。这项工作强调了深入的表型分析和基因分型在为IgAN患者提供个性化治疗策略方面的重要作用。
