Pistor K, Bachmann H, Rumpelt H J, Olbing H
Monatsschr Kinderheilkd. 1985 May;133(5):269-73.
In children with renal hematuria the Alport syndrome could be diagnosed more frequently, if electronmicroscopic examination of the patients renal biopsy and a positive family history were obtained. In 16 children with renal hematuria, Alport syndrome was suspected by renal biopsy, physical examination or family history. Electronmicroscopic examination of the biopsy specimens of all 16 children revealed thinning together with a thickening and lamellation of the glomerular basement membrane (GBM), considered to be characteristic for Alport syndrome. In 11 of the children nephropathy, inner ear deafness or ocular changes were identified in 31 family members. In these families genetic information on the risk for other children is possible; furthermore ineffective medications such as steroids and cytotoxic drugs can be avoided, once the diagnosis has been established. In 5 children with characteristic renal lesions family history revealed no further support of Alport syndrome. In these cases with presence of characteristic lesions of GMB without positive family history the diagnosis Alport syndrome cannot be established with certainty, further examinations are necessary.
在患有肾性血尿的儿童中，如果对患者进行肾活检的电子显微镜检查并获得阳性家族史，那么阿尔波特综合征的诊断频率可能会更高。在16名患有肾性血尿的儿童中，通过肾活检、体格检查或家族史怀疑患有阿尔波特综合征。对所有16名儿童的活检标本进行电子显微镜检查发现，肾小球基底膜（GBM）变薄，同时伴有增厚和分层，这被认为是阿尔波特综合征的特征。在11名患有肾病的儿童中，在31名家庭成员中发现了内耳耳聋或眼部病变。在这些家庭中，有可能获得其他儿童患病风险的遗传信息；此外，一旦确诊，就可以避免使用无效药物，如类固醇和细胞毒性药物。在5名具有特征性肾脏病变的儿童中，家族史未进一步支持阿尔波特综合征。在这些存在GBM特征性病变但无阳性家族史的病例中，无法确定诊断为阿尔波特综合征，需要进一步检查。
