Gubler M C, Dommergues J P, Foulard M, Bensman A, Leroy J P, Broyer M, Habib R
INSERM U. 192, Département de Néphrologie Pédiatrique, Hôpital Necker Enfants-Malades, Paris, France.
Pediatr Nephrol. 1993 Aug;7(4):354-60. doi: 10.1007/BF00857536.
A new type of hereditary glomerulopathy was observed in ten children presenting with early and progressive glomerular symptoms, often associated with hypertension. Light microscopy showed a diffuse increase in the mesangial matrix and generalized widening of the capillary walls. Electron-microscopic examination of renal tissue, after phosphotungstic acid treatment, revealed the presence of fibrillar collagen within the mesangial matrix and the subendothelial aspect of the glomerular basement membrane, adjacent to normal lamina densa. Immunohistochemical studies identified the fibrillar collagen not usually present within the glomerular extracellular matrix as type III collagen. Clinical and family studies ruled out the diagnosis of nail-patella syndrome, an autosomal dominant disorder with typical extrarenal symptoms, which is also characterized by the presence of fibrillar collagen within the glomerular basement membranes. The poor renal outcome, the possible extrarenal haematological and pulmonary involvement and the transmission as an autosomal recessive trait strongly suggest that collagen type III glomerulopathy is a new type of hereditary disease. From the high incidence of superimposed haemolytic uraemic syndrome in patients or their siblings, it may be hypothesized that collagen type III glomerulopathy is the underlying defect in some of the familial cases of haemolytic uraemic syndromes.
在10名出现早期进行性肾小球症状（常伴有高血压）的儿童中观察到一种新型遗传性肾小球病。光镜检查显示系膜基质弥漫性增加，毛细血管壁普遍增宽。经磷钨酸处理后的肾组织电镜检查显示，在系膜基质和肾小球基底膜内皮下层存在纤维状胶原，与正常致密层相邻。免疫组织化学研究确定，通常不存在于肾小球细胞外基质中的纤维状胶原为III型胶原。临床和家族研究排除了指甲-髌骨综合征的诊断，该综合征是一种常染色体显性疾病，具有典型的肾外症状，其特征也是肾小球基底膜内存在纤维状胶原。肾脏预后不良、可能的肾外血液学和肺部受累以及常染色体隐性遗传特征强烈提示III型胶原肾小球病是一种新型遗传性疾病。从患者或其兄弟姐妹中溶血尿毒综合征的高发病率推测，III型胶原肾小球病可能是某些家族性溶血尿毒综合征病例的潜在缺陷。
