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目的 分析研究 Ａｌｐｏｒｔ综合征（ＡＳ）临床、病理特点及基底膜Ⅳ型胶原的变化。方法对本科 １９９０．１～１９９６．６间发现的 １４例ＡＳ患者（１２家系）进行调查，其中男 １１例，女３例，平均年龄２９．４岁。结果１３例呈镜下血尿，７例伴发作性肉眼血尿。蛋白尿见于所有患者，３例为肾病综合征。进行性肾功能衰竭男性 １０例 （１１～３９岁）女性 １例（４０岁）。６例血透，其中接受肾移植 ２例。７５％有听力下降，以双侧神经性耳聋为主。２例前锥形晶体。遗传呈异质性，以Ｘ伴性显性为主（６个家系）。光镜改变以局灶节段硬化为主，免疫荧光多呈阴性，电镜呈弥漫肾小球基底膜（ＧＢＭ）厚薄不均（所有标本）及分层网状（１例）。４例ＸＤ－ＡＳ男性患者ＧＢＭ及表皮基底膜（ＥＢＭ）抗α３，４，５（Ⅳ）抗体间接免疫荧光均为阴性。结论ＡＳ是一并不少见的以血尿、蛋白尿、进行性肾功能衰竭伴眼、耳改变为特征的遗传病，其基底膜存在Ⅳ型胶原异常， Ⅳ型胶原各α链的检测对 ＡＳ有诊断意义。
Objective To analyze the clinical and pathological features of Alport syndrome (AS) and the changes of type Ⅳ collagen in basement membrane. Methods A total of 14 AS patients (12 pedigrees) between 1990.1 and 1996.6 were enrolled. Among them, 11 were males and 3 were females, with an average age of 29.4 years. Results 13 cases were microscopic hematuria, 7 cases with gross macroscopic hematuria. Proteinuria found in all patients, 3 cases of nephrotic syndrome. One case (40 years old) of 10 males (11-39 years) with progressive renal failure. 6 hemodialysis, of which 2 cases of renal transplantation. 75% hearing loss, mainly to bilateral neurological deafness. 2 cases of pre-tapered crystals. Hereditary heterogeneity, with X dominant sex dominant (6 families). Light microscope changes mainly focus on focal segmental sclerosis. Most of the immunofluorescence was negative. Electromicroscope showed diffuse glomerular basement membrane (GBM) with uneven thickness (all specimens) and stratified reticular formation (1 case). Indirect immunofluorescence staining of GBM and EBM anti-α3,4,5 (Ⅳ) antibodies in 4 male XD-AS patients was negative. Conclusion AS is not uncommon hereditary disease characterized by hematuria, proteinuria, progressive renal failure with eye and ear changes. There is an abnormal type IV collagen in basement membrane. Diagnostic significance.