Sato H, Saito T, Kurosawa K, Ootaka T, Furuyama T, Yoshinaga K
Second Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan.
Clin Nephrol. 1988 Apr;29(4):206-9.
A nine-year-old boy who exhibited mild proteinuria and severe renal dysfunction with short stature, mental retardation, retinitis pigmentosa, deafness, and intracranial calcification was presented. Clinical features of the patient were in the most part consistent with those of Cockayne's syndrome. On the renal biopsy, two-thirds of the glomeruli had fallen into global sclerosis. The remaining one-third showed thickening of the capillary walls and expansion of the mesangial matrix. Immunofluorescence study proved no significant deposition of immunoglobulins or complements. Electron microscopy revealed diffuse homogeneous thickening of the glomerular basement membrane. These histological findings were thought to be characteristic of the Cockayne's syndrome. Although the pathogenesis of Cockayne's syndrome is yet unknown, its renal lesions resembled those of an aged kidney, and a prematurely aged metabolic state was supposed as a principal cause of the disease.
报告了一名9岁男孩，其表现为轻度蛋白尿、严重肾功能不全，伴有身材矮小、智力发育迟缓、色素性视网膜炎、耳聋和颅内钙化。该患者的临床特征大部分与科凯恩综合征相符。肾活检显示，三分之二的肾小球已发展为全球性硬化。其余三分之一表现为毛细血管壁增厚和系膜基质扩张。免疫荧光研究证实无免疫球蛋白或补体的显著沉积。电子显微镜检查显示肾小球基底膜弥漫性均匀增厚。这些组织学发现被认为是科凯恩综合征的特征。尽管科凯恩综合征的发病机制尚不清楚，但其肾脏病变类似于老年肾脏，推测过早老化的代谢状态是该疾病的主要原因。
