本文關(guān)鍵詞： Alport綜合征 誤診 Ⅳ型膠原 基因檢測 兒童　出處：《中國當(dāng)代兒科雜志》2017年04期 　論文類型：期刊論文

【摘要】：目的探討兒童Alport綜合征(AS)臨床、病理特點(diǎn)和診治情況,以提高對AS的認(rèn)識。方法收集確診的91例AS患兒臨床資料進(jìn)行回顧性分析。結(jié)果 91例患兒均有血尿,86例伴有蛋白尿。61例X連鎖顯性遺傳AS(XL-AS)患兒有陽性家族史。腎活檢的82例患兒中74例有輕度或輕-中度系膜增生,48例系膜區(qū)少量免疫復(fù)合物,53例腎小球基底膜(GBM)有變薄、增厚和撕裂。63例進(jìn)行了腎組織Ⅳ型膠原α3、α5鏈免疫熒光檢測,確診AS 58例,其中53例符合XL-AS,5例符合常染色體隱性遺傳AS。91例AS患兒中,58例通過腎組織Ⅳ型膠原α3、α5鏈免疫熒光確診,21例通過電鏡確診,1例通過皮膚活檢確診;12例基因診斷確診。發(fā)現(xiàn)6個(gè)COL4A5基因新突變。45例曾被誤診其他疾病,其中41例接受過激素和/或免疫抑制劑治療。結(jié)論兒童AS臨床表現(xiàn)缺乏特異性,特征性GBM電鏡改變僅見于部分患兒,本區(qū)域兒童AS誤診誤治率仍較高。COL4A5基因新突變比例較高。
[Abstract]:Objective to investigate the clinical, pathological features, diagnosis and treatment of Alport syndrome in children. Methods the clinical data of 91 children with as were collected and analyzed retrospectively. Results there were 86 cases of hematuria with proteinuria and 61 cases of X-linked dominant genetic ASL ASL ASL with positive family history. Of 82 cases of renal biopsy, 74 cases had mild or mild to moderate Mesangial hyperplasia. 48 cases had a small amount of immune complex in Mesangial area and 53 cases had glomerular basement membrane (GBM) thinning. Renal tissue type 鈪，

本文編號：1519315