H因子突变与非典型性溶血尿毒综合征
被引量：1
Relationship between Complement Factor H Mutation and Atypical Hemolytic Uremic Syndrome
摘要
H因子是补体替代途径的重要调节因子,由于基因缺陷致使H因子减少或缺如,造成补体旁路途径持续激活,导致血管内皮损伤,临床上可引起非典型性溶血尿毒综合征(aHUS)等多种疾病。本文就H因子突变的位置、其与aHUS发病机制的关系及其对治疗的指导意义作一综述。
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2007年第5期388-390,共3页
Journal of Applied Clinical Pediatrics
参考文献20
-
1Perez - Caballero D, Gonzalez - Rubio C, Gallardo ME, et al. Clustering of missense mutations in the C - terminal region of factor H in atypical hemolytic uremic syndrome[J] .Am J Hum Genet,2001,68(2) : 478 -484.
-
2Licht C, Heinen S, Jozsi M, et al. Deletion of Lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease(MPGN Ⅱ) [J]. Kidney Int,2006,70( 1 ) :42 -50.
-
3Dragon - Durey MA, Loirat C, Cloarec S, et al. Anti - factor H autoantibodies associated with atypical hemolytic uremic syndrome[J]. J Am Soc Nephrol,2005 ,16( 2 ) : 555 -563.
-
4Hageman GS, Anderson DA, Johnson LV, et al. A common haplotype in the complement regulatory gene factor H(HF1/CFH) predisposes individuals to age - related macular degeneration [ J ]. Proc Natl Acad Sci USA, 2005,102 (20) :7227 - 7232.
-
5李建国,肖慧捷,杨霁云.补体H因子研究进展[J].国外医学（儿科学分册）,2005,32(3):143-146. 被引量：5
-
6Richards A, Buddies MR, Donne LR,et al. Factor H mutations in hemolytic uremic syndrome cluster in exons 18 - 20 : A domain important for host cell recognition[J]. Am J Hum Genet,2001,68(2) : 485 -490.
-
7Vaziri- Sani F, Hellwage J, Zipfel PF,et al. Factor H binds to washed human platelets[J]. J Thromb Haemost, 2005,3 ( 1 ) : 154 - 162.
-
8Jozsi M, Manuelian T, Heinen S,et al. Attachment of the soluble complement regulator factor H to cell and tissue surfaces: Relevance for pathology[ J]. Histol Histopathol,2004,19( 1 ) : 251 - 258.
-
9Mayer SA, Aledort M. Thrombotic mieroangiopathy : Differential diagnosis,pathophysiology and therapeutic strategies [J]. Mt Sinai J Med,2005, 72(3) :166 - 175.
-
10Noris M, Remuzzi G. Hemolytic uremic syndrome[J]. J Am Soc Nephrol,2005,16(4) : 1035 - 1050.
二级参考文献15
-
1Warwicker P, Donne RL, Goodship JA, et al. Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency [J]. Nephrol Dial Transplant, 1999, (5): 1229-1233.
-
2Warwicker P, Goodship TH, Goodship JA. Three new polymorphisms in the human complement factor H gene and promoter region[J]. Immunogenetics,1997,46(5) :437-438.
-
3Zipfel PF. Hemolytic uremic syndrome: how do factor H mutant mediate endothelial damage? [J] .Trends Immunol,2001,22(7) :345-348.
-
4Ault BH, Schmidt BZ, Fowler NL, et al. Human factor H deficiency.Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism[J] .J Biol Chem, 1997,272(40):25168-25175.
-
5Dragon-Durey MA, Fremeaux-Bacchi V, Loirat C, et al. Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulo nephritis: report and genetic analysis of 16 cases[J].J Am Soc Nephrol,2004,15(3):787-795.
-
6okiranta TS, Solomon A, Pangbum MK, et al. Nephritogenic lambda light chain dimer: a unique human miniautoantibody against complement factor H[J].J Immunol, 1999,163(8) :4590-4596.
-
7Hegasy GA, Manuelian T, Hogasen K, et al. The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type Ⅱ: point mutations in the factor H coding sequence block protein secretion[J]. Am JPathol, 2002,161 (6):2027-2034.
-
8Junnikkala S, Jokiranta TS, Friese MA, et al. Exceptional resistance of human H2 glioblastoma cells to complement-mediated killing by expression and utilization of factor H and factor H-like protein 1[J] .J Immunol,2000,164(11):6075-6081.
-
9Irani J, Desgrandchamps F, Millet C, et al. BTA stat and BTA TRAK: Acomparative evaluation of urine testing for the diagnosis of transitional cell carcinoma of the bladder[J]. Eur Urol, 1999,35(2) :89-92.
-
10Zipfel PF. Complement factor H: physiology and pathophysiology[J]. Semin Thromb Hemost,2001,27(3): 191-199.
共引文献4
-
1郑世信,郭敛容,姚利,刘钧,张瑞女,蔡智,苏永进.鼻息肉基因芯片检测及其基因表达谱的研究[J].临床耳鼻咽喉头颈外科杂志,2008,22(5):193-196. 被引量：1
-
2王鸿武,马廉.免疫缺陷病的血液学表现[J].中华实用儿科临床杂志,2017,32(3):176-181.
-
3朱成振,张醒,郭皓.补体因子H与心血管疾病的研究进展[J].昆明医科大学学报,2021,42(8):158-163. 被引量：2
-
4郭向萌,王凡,刘飞.山药提取物对虹鳟肝脏生化指标及脾脏免疫基因表达的影响[J].黑龙江畜牧兽医,2023(8):122-128.
同被引文献22
-
1薛新萍,曾文,杨林,李绍梅,李素敏,王彦.有毛细血管内增生的致密物沉积病一例[J].中华肾脏病杂志,2007,23(5):342-342. 被引量：2
-
2Yuzawa Y, Hasegawa M, Nabeshima K. Membranous nephropathy. Nippon Jinzo Gakkai Shi, 2010, 52: 894-898.
-
3Lesher AM, Song WC. Review: complement and its regulatory proteins in kidney diseases. Nephrology (Carlton), 2010, 15: 663-675.
-
4Sa~a JV, Ward PA. The complement system. Cell Tissue Res, 2011, 343:227-235.
-
5Trouw LA, Seelen MA, Daha MR. Complement and renal disease. Mol Immunol, 2003, 40: 125-134.
-
6Qiu w, Che N, Feng X, et al. Apoptosis of glomerular mesangial eells induced by sublytie C5b-9 eomplexes in rats with Thy-1 nephritis is dependent on Gadd45 gamma up- regulation. Eur J Immunol, 2009, 39: 3251-3266.
-
7Couser WG, Nangaku M. Cellular and molecular biology of membranous nephropathy. J Nephrol, 2006, 19: 699-705.
-
8He C, Imai M, Song H, et al. Complement inhibitors targeted to the proximal tubule prevent injury in experimental nephrotic syndrome and demonstrate a key role for C5b-9. J hnmunol, 2005, 174: 5750-5757.
-
9Xu K, Zhou Y, Qiu W, et al. Activating transcription factor 3 (ATF3) promotes sublytic CSb-9-induced glomerular mesangial cells apoptosis through up-regulation of Gadd45α and KLF6 gene expression. Immunobiology, 2011, 216: 871- 881.
-
10Nangaku M, Couser WG. Mechanisms of immune-deposit formation and the mediation of immune renal injury. Clin Exp Nephrol, 2005, 9: 183-191.
二级引证文献2
-
1汪瑛,林强,朱赟,徐琴英,朱雪明,王兴东,李晓忠.儿童C3肾小球肾炎7例[J].中华实用儿科临床杂志,2013,28(5):349-351. 被引量：11
-
2彭单单,程力平.肾小管上皮细胞损伤的研究进展[J].临床儿科杂志,2013,31(6):584-587. 被引量：3
-
1孙明明,孙慧.非典型小儿伤寒50例报道[J].贵阳医学院学报,1998,23(2):195-196.
-
2仇丽茹,周建华.H因子与肾脏疾病[J].实用儿科临床杂志,2004,19(9):790-792.
-
3易红,栾江威,李弢.小儿溶血尿毒综合征18例临床特征分析[J].医学临床研究,2009,26(8):1443-1445.
-
4吉浩明.儿童流行性腮腺炎合并非典型性病毒性脑炎23例报告[J].交通医学,1997,11(2):223-223.
-
5王树泉,韩秀明,吴桂英.46例非典型性川崎病临床分析[J].当代医学,2012,18(7):73-73.
-
6司晓静.非典型性川崎病65例临床分析[J].临床合理用药杂志,2013,6(23):53-53.
-
7曹修岩,谈钰贞,孙书珍,王莉.4例儿童非典型性急进性肾小球肾炎的诊治体会[J].山东医药,2004,44(2):31-32.
-
8王立生.儿童咳嗽变异性哮喘18例误诊分析[J].齐鲁医学杂志,2005,20(1):77-77.
-
9高作咏,谢模英,陈晓姣.不典型结核性脑膜炎误诊原因探讨(附4例报告)[J].咸宁医学院学报,1996,10(3):130-131.
-
10毛建华,夏永辉,梁黎.小儿特发性溶血尿毒症综合征13例临床分析[J].中华肾脏病杂志,2001,17(5):347-347.
