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。
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 occured 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 immunofluorescenc e (IF) were ne gatt ye 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 characterized by hematuria, proteinuria and progressive renal failure with sensorineural deafness and ocular lesions. Type Ⅳ collagen within Alpori patients' basement membrane is abnormal and iIF study of type Ⅳ collagen chains distribution is useful to confirm the diagnosis of AS.
出处
《中华肾脏病杂志》
CAS
CSCD
北大核心
2000年第4期223-226,共4页
Chinese Journal of Nephrology
基金
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)
