Nakanishi K, Yoshikawa N, Iijima K, Kitagawa K, Nakamura H, Ito H, Yoshioka K, Kagawa M, Sado Y
Department of Pediatrics, Kobe University School of Medicine, Japan.
Kidney Int. 1994 Nov;46(5):1413-21. doi: 10.1038/ki.1994.413.
The distribution of alpha 1-5 chains of type IV collagen [alpha 1-5(IV)] in the glomerular basement membrane (GBM) and epidermal basement membrane (EBM) of 23 families with hereditary nephritis was examined by indirect immunofluorescence. These families were divided into three clinicopathological groups. Group I (10 families) patients showed a widespread "basket weave" pattern of the GBM and a family history of nephritis was present. Group II (6 families) patients showed a widespread "basket weave" change without a family history of nephritis. Group III (7 families) patients showed a widespread attenuation of the GBM but no "basket weave" change, and had a family history of nephritis and chronic renal failure. alpha 1(IV) and alpha 2(IV) were present in all affected and unaffected family members and controls. All normal family members and controls expressed alpha 3(IV), alpha 4(IV) and alpha 5(IV) in the GBM and alpha 5(IV) in the EBM in a diffuse pattern. All group I families and three of the group II families exhibited complete loss of the alpha 5(IV) antigen from the GBM and EBM in male patients, and segmental loss of the alpha 5(IV) antigen in female patients. In these families the alpha 3(IV) and alpha 4(IV) antigens were completely lost from the GBM in male patients with severe nephritis, whereas alpha 3(IV) alpha 4(IV) were present but diminished in male patients with mild nephritis. Three group II and all group III families expressed the alpha 3-5(IV) antigens in an identical manner to that of normal controls. These findings indicate that the heterogeneity of hereditary nephritis reflects a variety of aberrant expression patterns of alpha 3-5(IV) and that immunohistochemical examination of alpha 5(IV) in the EBM is a useful method for the diagnosis of X-linked Alport syndrome.
采用间接免疫荧光法检测了23个遗传性肾炎家系的肾小球基底膜（GBM）和表皮基底膜（EBM）中IV型胶原α1 - 5链[α1 - 5(IV)]的分布情况。这些家系被分为三个临床病理组。I组（10个家系）患者的GBM呈现广泛的“篮纹”样改变，且有肾炎家族史。II组（6个家系）患者的GBM有广泛的“篮纹”样改变，但无肾炎家族史。III组（7个家系）患者的GBM呈现广泛变薄，但无“篮纹”样改变，且有肾炎家族史和慢性肾衰竭。α1(IV)和α2(IV)在所有患病和未患病的家庭成员及对照中均有表达。所有正常家庭成员及对照在GBM中均呈弥漫性表达α3(IV)、α4(IV)和α5(IV)，在EBM中呈弥漫性表达α5(IV)。所有I组家系及II组中的3个家系，男性患者的GBM和EBM中α5(IV)抗原完全缺失，女性患者中α5(IV)抗原呈节段性缺失。在这些家系中，重度肾炎男性患者的GBM中α3(IV)和α4(IV)抗原完全缺失，而轻度肾炎男性患者中α3(IV)、α4(IV)存在但减少。II组中的3个家系及所有III组家系中α3 - 5(IV)抗原的表达方式与正常对照相同。这些发现表明，遗传性肾炎的异质性反映了α3 - 5(IV)多种异常表达模式，且对EBM中α5(IV)进行免疫组化检测是诊断X连锁Alport综合征的一种有用方法。
