期刊文献+

石骨症临床分析——附3例报告及文献复习 被引量:7

下载PDF
导出
摘要 目的对石骨症的病因、病理、诊断、治疗及预后进行探讨。方法 收集本院1970~2000年诊断的3例,结合国内外报道的45例资料进行分析。结果该病患儿贫血及肝脾肿大突出,血象有类白反应,骨髓穿刺难以成功,骨骼X线具有确诊意义。结论 该病属于常染色体显性遗传性疾病,其病理基础为成骨过程中软骨基质持续钙化。石骨症预后不良,骨髓移植可能为治疗新途径。
出处 《罕少疾病杂志》 2002年第2期16-18,共3页 Journal of Rare and Uncommon Diseases
  • 相关文献

参考文献8

  • 1吴瑞萍 胡亚美 江载芳.实用儿科学[M](第6版)[M].北京:人民卫生出版社,1995.1132-1135.
  • 2何威逊.石骨症2例报道[J].中华儿科杂志,1981,(3):160-160.
  • 3杨士元 郭连汉.石骨症15例临床与病理报道[J].进修医师,1980,:28-28.
  • 4Tachdjian MO. Pediatric osteopetrosis [M]. Second ed. WB saunder Company, 1990. 817 ~824.
  • 5Gordan RS, Smith Ch. Diagnostic radiology in pediatrice[M]. London: Butterworth, 1987.120.
  • 6Reeves JD, Sallk B. The hematopoietic effects of prednisone therapy in four infants with osteopetrosis [J]. J Pediatr, 1989,94:210.
  • 7Walke DG. Experimental osteopetrosis [J]. Clinorthop,1983, 97:158.
  • 8Ballet J J, Marks SG. Bone marrow transplantation in osteopetrosis [J]. Lancet Ⅱ, 1990, 1137.

共引文献36

同被引文献27

  • 1白新中 冯金.石骨症1例.新乡医学院学报,1994,11(4):402-402.
  • 2Chen W, Yang S, Abe Y, et al. Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence [J]. Hum Mol Genet,2007,16(4) :410 -423.
  • 3Waguespack SG, Hui SL, Dimeglio LA, et al. Autosomal dominant osteopetrosis:Clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation [ J ]. J Clin Endocrinol Metab, 2007,92 (3) :771 -778.
  • 4Katzir Z, Dinour D, Reznik - Wolf H ,et al. Familial pure proximal renal tubular acidosis-a clinical and genetic study [ J ]. Nephrol Dial Transplant ,2008,23 (4) : 1211 - 1215.
  • 5Cleiren E, Benichou O, van Hul E, et al. Albers - Schonberg disease ( autosomal dominant osteopetrosis, type II) results from mutations in the CLCN7 chloride channel gene [ J]. Hum Mol Genet, 2001,10 (25) : 2861 - 2867.
  • 6Matsumura T, Kawamura -Tsuzuku J, Yamamoto T, et al. TRAF -interacting protein with a forkhead - associated domain B (TIFAB) is a negative regulator of the TRAF6 - induced cellular functions [ J ]. j Biochem,2009,146 ( 3 ) :375 - 381.
  • 7Komak U, Ostertag A, Branger S, et al. Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II [ J ]. J Clin Endocrinol Metab ,2006,91 (3) :995 - 1000.
  • 8孔庆德.临床X线诊断学[M].上海:上海科学技术出版社,1989:78.
  • 9[4]曹来宾.实用骨关节影像诊断学[M].济南:山东科学技术出版社,2001:147.
  • 10[2]吴瑞萍,胡亚美,江载芳.实用儿科学[M].第6版.北京人民卫生出版社,2000.2310.

引证文献7

二级引证文献6

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