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目的 认识Alport综合征 (AS)女性临床表型以及基因型特征。方法 AS女性共 9例 ,年龄 2～ 6 2岁 ;临床表现以血尿为主 ,伴蛋白尿 (+)～ (++) ,除 1例血BUN和肌酐升高 ,其余患者在进入本研究时肾功能均正常。未发现典型的眼部病变及感音神经性耳聋。AS男性共 11例 ,年龄 2～2 8岁 ;临床表现为血尿、蛋白尿 (+)～ (++++) ,2例进入本研究时 (分别为 17岁和 2 8岁 )已出现尿毒症或因尿毒症已行肾移植 ;7例伴有感音神经性耳聋 ,2例伴有眼部病变。以正常皮肤组织对照4例、正常肾组织对照 2例及健康成人 6例基因组DNA为对照。应用间接免疫荧光学方法 ,检测 8/9例AS女性和 9/11例AS男性皮肤基底膜、3/9例AS女性和 6 /11例AS男性肾脏基底膜Ⅳ型胶原α 5链。应用PCR SSCP方法分析全部研究对象的COL4A5基因全部 5 1个外显子 ,出现多态性的外显子直接测序分析。结果 AS女性与AS男性相比 ,临床症状相对轻 ,少有出现肾功能减退 ,多不伴有肾外症状。 (1)AS女性皮肤和肾脏基底膜α 5 (Ⅳ )链均为间断阳性 ,而正常对照为连续阳性、男性AS表现为完全阴性。 (2 )PCR SSCP分析显示 5 /9例女性AS患者分别在第 4、9、2 0、39和第 46外显子扩增产物的DNA条带出现特殊的迁移类型 :DNA单链既有与正常对照的DNA迁移率相同的条带
Objective To understand the clinical phenotypes and genotypes of women with Alport syndrome (AS). Methods A total of 9 AS women aged 2 to 62 years old were enrolled in this study. The main clinical manifestations were hematuria, with proteinuria (+) ~ (++), except for one case of elevated blood levels of BUN and creatinine. Other patients entered the study Renal function are normal. No typical ocular lesions and sensorineural deafness were found. A total of 11 AS patients, aged 2 to 28 years old; clinical manifestations of hematuria, proteinuria (+) ~ (++++), 2 patients entered the study (17 and 28 respectively) have been uremic Symptoms or renal failure due to uremia have been performed; 7 patients with sensorineural deafness, 2 patients with ocular lesions. The normal skin tissue control in 4 cases, 2 cases of normal kidney tissue and 6 cases of healthy adult genomic DNA as a control. Indirect immunofluorescence assay was used to detect collagen type Ⅳ chain in 8/9 AS women and 9/11 AS male dermis, 3/9 AS women and 6/11 AS male kidney. All 5 1 exons of COL4A5 gene were analyzed by PCR SSCP method, and the exon direct sequencing of polymorphism was analyzed. Results AS women compared with AS men, the clinical symptoms are relatively light, rare renal dysfunction, mostly without extra-renal symptoms. (1) The α 5 (Ⅳ) chains in the skin of AS and the basal lamina of kidney were all intermittent positive, but the normal control was continuous positive and the male AS was completely negative. (2) PCR SSCP analysis showed that there were special migration types in the DNA bands of the 4, 9, 02, 0, 39 and 46 exon amplification products in 5 of 9 female patients with AS: Normal control DNA bands with the same mobility