期刊文献+

胶原Ⅲ肾小球病家系报道 被引量:4

Report of a pedigree of collagen type Ⅲ glomerulopathy
原文传递
导出
摘要 目的了解胶原Ⅲ肾小球病临床表现、病理特点和遗传方式。方法总结分析2例通过肾脏病理确诊为胶原Ⅲ肾小球病的同胞兄弟临床、病理资料以及家系调查结果。结果2例患者分别为33、34岁男性,发病时为32、31岁,临床均表现为大量蛋白尿(1例为肾病综合征)、高血压、肾功能不全(Scr分别为128、313μmol/L),均有左心室肥厚。无血尿、骨骼改变和其他肾外体征。血浆前胶原Ⅲ浓度均异常增高(>50ng/L)。光镜均表现为系膜区明显增宽,肾小球基底膜(GBM)增厚,部分呈假双轨改变,免疫荧光均为阴性。电镜下GBM弥漫增厚,内皮细胞侧及系膜区可见大量粗大的平行排列成束胶原纤维沉积,直径在60~100nm之间。Ⅲ型胶原免疫荧光均为强阳性,沿GBM和系膜区沉积。家系调查显示该同胞兄弟父母为近亲婚配,其同胞妹妹无临床肾脏改变,但其血浆前胶原Ⅲ同样显著升高(>50ng/L)。结论家族性胶原Ⅲ肾病罕见,家系调查符合常染色体隐性遗传方式,国内目前尚无胶原Ⅲ肾小球病家系报道。 Objective To summarize the clinical, pathological features and inheritance mode of familial collagen type Ⅲ glomerulopathy. Methods The clinical manifestations and pathological findings of 2 affected brothers and their family information were collected. Results Two affected brothers, one was 33-year old and the other was 34-year old. Both of them had great amount of protein excretion in urine (3.1 g, 6.38 g respectively), and one of them had nephrotic syndrome. Both presented hypertension and renal insufficiency (serum creatinine 128μmol/L, 313μmol/L respectively). Neither hematuria nor abnormalities of nail and bone was found. Their serum concentrations of procollagen Ⅲ peptide were elevated (〉50 ng/L). Renal biopsy revealed that massive huddle fibrils were deposited in mesangium and glomerular basement membrane subendothelial area by electron microscopy. Strong staining of type Ⅲ collagen was observed in the mesangial area and along the glomerular capillary loops. Family survey showed their parents' marriage was consanguineous. The concentration of procollagen Ⅲ peptide was also obviously elevated (〉50 ng/L) in their younger sister hut no proteinuria, hematuria, nor hypertension was detected and her renal function was normal. Conclusion Familial collagen type Ⅲ glomerulopathy is rare. Our findings supported an autosomal recessive pattern of inheritance. It is the first familial case reported in Chinese population.
出处 《中华肾脏病杂志》 CAS CSCD 北大核心 2005年第11期645-648,共4页 Chinese Journal of Nephrology
基金 上海市重点学科建设项目(T0201)上海市卫生局医学领先专业(983009)上海市百名跨世纪优秀学科带头人培养计划(百人计划)(98BR034)上海市青年科技启明星培养计划(03QD14021)上海市卫生局优秀青年医学人才培养计划
关键词 肾炎 遗传性 胶原Ⅲ肾小球病 前胶原Ⅲ Nephritis, hereditary Collagen type Ⅲ glomerulopathy Procollagen Ⅲ pepfide
  • 相关文献

参考文献17

  • 1Arakawa M, Fueki H, Hirano H, et al. Idiopathic mesangio degenerative glomerulopathy: a proposal of new disease entity.Nichi-Jin-Shi (Japanese), 1979,121:914-915.
  • 2Ikeda K, Yokoyama H, Tomosugi N, et al. Primary glomerular fibrosis: a new nephropathy caused by diffuse intra-glomerular increase in atypical type Ⅲ collagen fibers.Clin Nephrol, 1990,33: 155-159.
  • 3Dombros N, Katz A. Nail patella-like renal lesions in the absence of skeletal abnormalities. Am J Kidney Dis, 1982, 1:237 -240.
  • 4Imbasciati E, Gherardi G, Morozumi K, et al. Collagen type Ⅲ glomerulopathy: a new idiopathic glomerular disease. Am J Nephrol, 1991,11:422-429.
  • 5Ozu H, Nitta K, Yumura W, et al. A case of primary glomerular fibrosis associated with the accumulation of type Ⅰand type Ⅲ collagen. Jpn J Nephrol, 1994,36:1315-1319.
  • 6Yoshida F, Yuzawa Y, Shigematsu H, et al. Nephrotic syndrome with massive accumulation of type Ⅰ and type Ⅲcollagen in the glomeruli. Intern Med, 1993,32:171-176.
  • 7Salcedo JR. An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred. Am J Med Genet,1984, 19: 579-584.
  • 8Gubler MC, Dommergues JP, Foulard M, et al. Collagen type Ⅲ glomerulopathy: a new type of hereditary nephropathy. Pediatr Nephrol, 1993,7: 354-360.
  • 9Vogt BA, Wyatt R J, Burke BA, et al. Inherited factor H deficiency and collagen type Ⅲ glomerulopathy. Pediatr Nephrol, 1995,9: 11 - 15.
  • 10Tamura H, Matsuda A, Kidoguchi N, et al. A family with two sisters with collagenofibrotic glomerulonephropathy. Am J Kidney Dis, 1996,27:588-595.

二级参考文献14

  • 1张鸣和,肾脏病学,1996年,1306页
  • 2章友康,中华内科杂志,1995年,34卷,367页
  • 3Gibson IW, More IA. Glomerular pathology: recent advances.J Pathol, 1998, 184: 123-129.
  • 4Iskandar SS, Herrera GA. Glomerulopathies with organized deposits. Semin Diagn Pathol, 2002, 19: 116-132.
  • 5Gubler MC, Heidet L, Antignac C. Alport's syndrome, thin basement membrane nephropathy, nail-patella syndrome, and type Ⅲ collagen glomerulopathy. In: Jennette JC, Olson JL,Schwartz MM, et al. eds. Heptinstall's pathology of the kidney. 5th ed. Philadelphia: Lippincott-Raven Publishers,1998. 1224-1226.
  • 6Gubler MC, Dommergues JP, Foulard M, et al. Collagen type Ⅲ glomerulopathy: a new type of hereditary nephropathy.Pediatr Nephrol, 1993, 7:354-360.
  • 7Yasuda T, Imai H, Nakamoto Y, et al. Collagenofibrotic glomerulopathy: a systemic disease. Am J Kidney Dis, 1999,33: 123-127.
  • 8Yoshida F, Yuzawa Y, Shigematsu H, et al. Nephrotic syndrome with massive accumulation of type Ⅰ and type Ⅲ collagen in the glomeruli. Intern Med, 1993, 32:171-176.
  • 9Morita H, Hasegawa T, Minamoto T, et al. Collagenofibrotic glomerulopathy with a widespread expression of type-Ⅴ collagen. Virchows Arch, 2003, 442: 163-168.
  • 10Tamura H, Matsuda A, Kidoguchi N, et al. A familily of two sisters with collagenofibrotic glomerulonephropathy. Am J Kidney Dis, 1996, 27: 588-595.

共引文献9

同被引文献47

  • 1卢东齐.胶原Ⅲ肾小球病1例报告[J].中国中西医结合肾病杂志,2005,6(2):113-113. 被引量:1
  • 2刘学光,赵仲华,刘晔,张志刚,郭慕依.Ⅲ型胶原肾小球病一例[J].中华肾脏病杂志,2005,21(6):336-337. 被引量:5
  • 3李玲,邹万忠,王素霞,王盛兰,王薇,韩志惠,杜娟,薄莉.Ⅲ型胶原肾小球病的形态学观察[J].中华病理学杂志,2005,34(7):385-388. 被引量:5
  • 4顾菲菲,商惠萍.胶原Ⅲ肾小球病1例[J].辽宁医学杂志,2007,21(1):45-46. 被引量:2
  • 5贺西南,向少伟.脂蛋白肾病的研究现状[J].中国中西医结合肾病杂志,2007,8(7):433-434. 被引量:7
  • 6Arakawa M,Fueki H,Hirano H,et al.Idiopathic mesangiodegenerative glomerulopathy;a proposal of new disease entity[J].Nichi-Jin-Shi (Japanese),1979,121:914-915.
  • 7Ikeda K,Yokoyama H,Tomosugi N,et al.Primary glomendar fibrosis; a new nephropathy caused diffuseinfra-glomerular increase in atypical type Ⅲ collagen fibers[J].Clin Nephrol,1990,33:155-159.
  • 8Abt AB,Cohen AH.Newer glomerular disease[J].Sem in Nephrol,1996,16:501-510.
  • 9Yoshida F,Yuzawa Y,Shigematsu H,et al.Nephrotic syndrome w ithmassive accumulation of ty-pe Ⅰ and Ⅲ collagen in the glumeru2li[J].Intern Med,1993,32:171-176.
  • 10Gubler MC,Heidet L,Antignac C.Alport's syndrome,thin basement membrane nephropathy,nail-patella aynurome,and type Ⅲ collagen glomerulopathy.Int Jennette JC.Olson JL,Schwartz MM,et al.Heptiascall's pathology of the kidney[M].5th ed.Philadelphia:Lippincott-Raven Publishers,1998:1224-1226.

引证文献4

二级引证文献10

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部