小儿Alport综合征的临床病理分析

Clinical pathology of Alport's syndrome in children

目的 :探讨小儿遗传性肾炎 (Alport’ssyndrome,AS)的临床病理尤其是超微病理特征和鉴别诊断。 方法 :收集我科小儿肾活检标本 82 0例 ,对其中诊断为AS的 7例肾活检进行了光镜、特殊染色 (PAS、PASM和Masson染色 )、免疫组化 (IgA、IgM、IgG和补体C3 )和电镜的系统观察 ,着重对其超微病理进行了详尽的观测 ,并结合临床病史进行了分析。结果 :7例小儿AS的肾活检光镜下主要表现为局灶性系膜细胞增生 ,间质有泡沫细胞形成。电镜下小球基膜可见增厚、变薄及两者相间改变 ,见特征性的基膜板层状分裂、蓝编状及花纹状改变 ,其内常有圆形的微粒 ,小球内未见电子致密物沉着 ,免疫组化小球内未见明确的免疫复合物沉着。结论 :电镜是诊断AS的重要手段 ,AS的诊断主要通过电镜 ,但必须强调要与常规的病理组织学、免疫组化 ,尤其是临床病史紧密结合方可确诊。

Purpose To study the clinicopathologic and to ultrastructural features of Alports syndrome (AS) in children and discuss the differential diagnosis of AS. Methods Seven cases of AS in children were examined with HE, histochemical stains (PAS, PASM and Masson), immunohistochemical stains (IgA, IgM, IgG and C 3) and electron microscopic examinations. Results Seven cases of AS mainly showed focal glomerular mesangial proliferation and infiltration of foam cells in mesenchyme. The glomerular basement membrane(GBM) showed both thining and thickening, and the lamina densa was split into multiple, interwoven stands and basket weaving patterns that occasionally enclosed round microparticles. No electron dense deposits were found in the glomerules. Conclusions Electron microscopic examination of renal tissue remains the most readily available means for confirming a suspected diagnosis of AS. The diagnosis of AS depends on the characteristic ultrastructural alteration of Alports syndrome in GBM, along with routine histological, immunohistochemical examinations and its clinical history.