Habib R, Gubler M C, Hinglais N, Noël L H, Droz D, Levy M, Mahieu P, Foidart J M, Perrin D, Bois E, Grünfeld J P
Kidney Int Suppl. 1982 May;11:S20-8.
We review the characteristic morphologic features identifiable by electron microscopy that have been described in patients presenting with Alport's syndrome. They are diffuse thickening and splitting of the glomerular basement membrane (GBM), which are either isolated or associated with thinning. In occasional cases, only diffuse thinning can be seen. Our study of 100 families followed in Necker's hospital, of which 60 patients have had electron microscopic examination of their renal parenchyma, demonstrates that these GBM changes are highly suggestive of Alport's syndrome. All the patients included in the study fulfilled the following clinical criteria: familial incidence, nerve deafness in the propositus or in another member of the family, renal disease with progression to renal failure in the proband or in another member of the kindred. Although a failure in the proband or in another member of the kindred. Although a normal GBM was found in five patients, the GBM changes should be one of the criteria for the definition of the syndrome. Results dealing with a few other problems raised by this syndrome are reported. They concern the antigenicity and the biochemical composition of the GBM, the incidence of macular and perimacular changes, and the genetic transmission of the disease. It is concluded that Alport's syndrome is genetically heterogeneous and that the GBM ultrastructural changes are observed in most patients whatever the type of genetic transmission.
我们回顾了通过电子显微镜可识别的、在患有阿尔波特综合征的患者中所描述的特征性形态学特征。它们是肾小球基底膜（GBM）的弥漫性增厚和分裂，这些变化要么是孤立出现的，要么与变薄相关。在少数情况下，只能看到弥漫性变薄。我们对在奈克尔医院随访的100个家庭进行了研究，其中60例患者对其肾实质进行了电子显微镜检查，结果表明这些GBM变化高度提示阿尔波特综合征。纳入该研究的所有患者均符合以下临床标准：家族发病率、先证者或家族中其他成员存在神经性耳聋、先证者或家族中其他成员患有进展至肾衰竭的肾病。尽管在5例患者中发现GBM正常，但GBM变化应是该综合征定义的标准之一。报告了有关该综合征引发的其他一些问题的研究结果。这些问题涉及GBM的抗原性和生化组成、黄斑和黄斑周围变化的发生率以及疾病的遗传传递。得出的结论是，阿尔波特综合征在遗传上是异质性的，并且无论遗传传递类型如何，大多数患者都可观察到GBM超微结构变化。
