摘要
目的 :了解基膜Ⅳ型胶原α链在不同遗传类型Alport综合征 (AS)、薄基膜肾病、家族性IgA肾病中分布特点 ,探讨其与上述疾病的关联和临床意义。 方法 :运用针对Ⅳ型胶原不同α链单抗 ,采用间接免疫荧光法(iIF)检测皮肤和肾组织基膜Ⅳ型胶原α1、3、5链分布。 结果 :8例男性X伴性显性AS(XD -AS)患者α5 (Ⅳ )链在皮肤和 (或 )肾组织基膜上IF为阴性 ,肾组织α3(Ⅳ )链IF亦呈阴性。 4例女性XD AS患者表皮基膜上α5 (Ⅳ )链IF呈不连续沉积。 4例XD AS女性、1例常染色体隐性遗传AS和所有常染色体显性遗传AS、薄基膜病、IgA肾病患者肾组织和皮肤IF均为阳性 ,与正常对照相同。XD AS患者中 ,皮肤α5 (Ⅳ )链表达程度越低 ,发病年龄和出现肾衰的时间越早 ,听力累及频率范围越广 ,表现前锥形晶体越多。 结论 :不同遗传方式的ASⅣ型胶原α链表达异常存在显著差异 ,不同组织Ⅳ型胶原α链检测对AS诊断、鉴别诊断和遗传方式判断具有重要意义 ,α5 (Ⅳ )
Objective:To determine the distribution,significance and different expression of collagen Ⅳ α chains on the basement membrane among patients with Alport syndrome(AS),the thin basement membrane disease(TBMD)and familial IgA nephropathy(FIgAN). Methodology:22 AS,3 TBMD and 9 FIgAN patients were investigated.The expressions of collagen Ⅳ α chains on the epidermal basement membrane(EBM)of the skin,the glomerular basement membrane (GBM),distal tubular basement membrane and Bowman′s capsule of the kidney were detected by indirect immunofluorescent(IF)method using monoclonal antibodies against α1,3 and 5 chains of collagen Ⅳ. Results:In 8 male patients with X linked dominant AS(XD AS),the expression of collagen Ⅳ α5 chain on EBM was negative.The expressions of α3 and 5 chains on GBM,distal tubular basement membrane and Bowman′s capsule were all negative as well.In 4 female patients with XD AS,one autosomal recessive AS(AR AS),5 autosomal dominant AS(AD AS),3 TBMD,and 9 FIgAN,the expressions of collagen Ⅳ α3 and 5 chains were positive on both the EBM and GBM,which were same as in normal control.In another 4 female patients with XD AS,the deposition of collagen Ⅳ α5 chains on EBM was discontinuous.We also observed that the expression of collagen Ⅳ α5 chain on EBM of skin was associated with clinical manifestations.The lower degree of collagen Ⅳ α5 chain expression on EBM of skin was correlated to the earlier onset of disease,renal involvement,more severe hearing loss and more extensive impairment of the hearing frequency involved. Conclusion:The immunohistological study of collagen Ⅳ α chains expression on EBM and GBM is an useful reference for the diagnosis,differential diagnosis and hereditary mode determination of AS.There are great differences of collagen Ⅳ α chains expressions on EBM and GBM among those different hereditary modes of AS,TBMD and partial familial IgAN.The expression of collagen Ⅳ α5 chain on EBM may also be taken as a simple and useful marker for predicting the patients′ outcome.
出处
《肾脏病与透析肾移植杂志》
CAS
CSCD
2001年第3期201-204,共4页
Chinese Journal of Nephrology,Dialysis & Transplantation
基金
上海市高等学校科技基金项目 (97B0 8)
上海市卫生系统百人计划资助项目 (98BR0 3 4 )
