摘要：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。

A clinicopathological study of Alport syndrome and detection of type Ⅳ collagen chains in Alport patients

CHEN Nan ,PAN XiaoXia ,REN Hong

(Department of Nephrology,Ruijin Hospital,Shanghai Second Medical University,Shanghai 200025, China)

Abstract：Objective To analyse the clinicopathological changes of Alport syndrome (AS) and to detect the deposition of type Ⅳ collagen within basement membrane of Alport patients. Methods Fourteen patients with AS (12 families) hospitalized from 1990. 1 to 1996.6 were investigated.Eleven were male and 3 female (mean age 29.4 years).Results Microscopic hematuria was found in 13, with recurrent gross hematuria in 7.All had proteinuria.Three patients presented nephrotic syndrome.Progressive renal failure occurred in 10 of 11 male(11～39 years) and 1 female (40 years).Six patients were treated with hemodialysis,two of them with transplantation.Sensorineural deafness was observed in 9 patients particularly high frequency sound.Anterior lenticonus were presented in 2.It showed heterogeneitic,50% transmitted as X-linked dominant(XD) trait.In 7 renal biopsies,the findings by light microscopy mostly revealed focal and segmental sclerosis glomerulonephritis (4/7).The results of immunofiuorescence(IF)were negative in 4 .Ultrastructural studies showed variable thickening,thinning of glomerular basement membrane (GBM) in 7 specimens with lamellation and basket-weaving of GBM in 1.Using the iIF technique,the α3, 4, 5 (Ⅳ)chains were absent within both GBM and EBM of 4 male XD-AS patients.Conclusions AS is not a rare hereditary disease characterised by hematuria,proteinuria and progressive renal failure with sensorineural deafness and ocular lesions.Type Ⅳ collagen within Alport patients' basement membrane is abnormal and ilF study of type Ⅳ collagen chains distribution is useful to confirm the diagnosis of AS.

Keywords：Alport syndrome; Collagen type Ⅳ; Indirect immunofluorescence

基金项目：上海市高等学校科技基金(97B08)；上海市卫生系统百人计划资助项目(98BR034)

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收稿日期：1999-11-15