Takemura T, Yoshioka K, Akano N, Michihata I, Okada M, Maki S, Shigematsu H
Department of Paediatrics, Kinki University School of Medicine, Osaka-Sayama, Japan.
Pediatr Nephrol. 1993 Feb;7(1):86-8. doi: 10.1007/BF00861584.
A 9-year-old girl with Down (21-trisomy) syndrome was found to have proteinuria and microscopic haematuria at age 6 years. Proteinuria gradually increased during the next 3 years, although blood pressure and renal function remained normal. The patient exhibited no underlying systemic diseases, monoclonal gammopathy, cryoglobulinaemia or histological evidence of plasmacytoma. A percutaneous renal biopsy revealed immunotactoid glomerulopathy (fibrillary glomerulonephritis) characterized by thickening of the glomerular basement membrane, diffuse mesangial expansion and various-sized acid-Schiff-positive nodules that were intensely positive for IgG, light chains (kappa and lambda) and complement components (C3, C4, C1q) along the glomerular capillaries in the mesangium. Congo red dye and amyloid thioflavine T staining were negative. Fibrils (15-17 nm in diameter--larger than amyloid fibrils) were present in the mesangial area and within the glomerular basement membrane. We are not aware of a previous report of immunotactoid glomerulopathy and a patient with chromosomal abnormalities.
一名9岁的唐氏（21-三体）综合征女孩在6岁时被发现有蛋白尿和镜下血尿。在接下来的3年里，蛋白尿逐渐增加，尽管血压和肾功能仍保持正常。该患者没有潜在的全身性疾病、单克隆丙种球蛋白病、冷球蛋白血症或浆细胞瘤的组织学证据。经皮肾活检显示为免疫触须样肾小球病（纤维性肾小球肾炎），其特征为肾小球基底膜增厚、系膜弥漫性扩张以及系膜区肾小球毛细血管内有大小不一的对IgG、轻链（κ和λ）和补体成分（C3、C4、C1q）呈强阳性的酸性-Schiff阳性结节。刚果红染料和淀粉样硫黄素T染色均为阴性。在系膜区和肾小球基底膜内可见直径为15-17纳米的纤维（比淀粉样纤维大）。我们不知道之前有关于免疫触须样肾小球病与染色体异常患者的报道。
