Immunology Department, Son Espases University Hospital, Balearic Islands Health Research Institute (IdISBa), Palma de Mallorca, Spain.
Pathology Department, Son Espases University Hospital, Balearic Islands Health Research Institute (IdISBa), Palma de Mallorca, Spain.
Clin Immunol. 2024 Nov;268:110354. doi: 10.1016/j.clim.2024.110354. Epub 2024 Sep 3.
Alport syndrome (AS) is a hereditary disorder caused by pathogenic variants in COL4A3, COL4A4, or COL4A5 genes expressing α3, α4, and α5 chains of basement membrane type IV collagen (COL4). The triple-helical α3α4α5(IV) protomer is a major component of the mature glomerular basement membrane (GBM) whose defective formation in AS leads to structural GBM disruption and kidney dysfunction, often resulting in kidney replacement therapy. A genetically intact renal graft exposes the immune system to a non-tolerized α3α4α5(IV) component and an alloimmune response eventually ensues. So far, only IgG alloantibodies reacting against COL4 have been reported in AS alloimmune responses. Here, we report alloimmune glomerulonephritis mediated by IgA antibodies against the non-collagenous C-terminal domain 1 of the α5(IV) chain in a patient with autosomal recessive AS following a second kidney transplantation. The patient presented a not previously described biallelic variant in the COL4A4 gene. Immunological, diagnostic, and clinical implications are discussed.
Alport 综合征(AS)是一种遗传性疾病,由 COL4A3、COL4A4 或 COL4A5 基因中的致病性变异引起,这些基因表达基底膜 IV 型胶原的α3、α4 和α5 链(COL4)。三螺旋α3α4α5(IV)原聚体是成熟肾小球基底膜(GBM)的主要成分,AS 中其形成缺陷导致 GBM 结构破坏和肾功能障碍,常导致肾脏替代治疗。遗传完整的肾移植物使免疫系统暴露于非耐受的α3α4α5(IV)成分,随后发生同种免疫反应。到目前为止,在 AS 的同种免疫反应中仅报道了针对 COL4 的 IgG 同种抗体。在这里,我们报告了一名常染色体隐性 AS 患者在第二次肾移植后由针对α5(IV)链非胶原 C 端结构域 1 的 IgA 抗体介导的同种免疫肾小球肾炎。该患者表现出 COL4A4 基因中以前未描述的双等位基因变异。讨论了免疫、诊断和临床意义。