期刊文献+

婴儿型低磷酸酶血症1例报告及文献复习 被引量:3

Infantile hypophosphatasia:case report with literature review
下载PDF
导出
摘要 目的加强对婴儿型低磷酸酶血症的认识。方法对1例婴儿型低磷酸酶血症的临床特点进行分析,并复习相关文献。结果婴儿型低磷酸酶血症多在生后最初6个月起病,表现为高钙血症、呼吸道感染、广泛的骨化不全及干骺端的佝偻病改变,病死率高。结论对婴儿型低磷酸酶血症应加强认识,争取早期诊断,及时治疗,以改善预后。
出处 《临床儿科杂志》 CAS CSCD 北大核心 2009年第2期163-164,168,共3页 Journal of Clinical Pediatrics
关键词 低磷酸酶血症 高钙血症 儿童 hypophosphatasia hypercalcaemia children
  • 相关文献

参考文献9

  • 1Souka AP, Raymond FL, Mornet E, et al. Hypophos-phatasia associated with increased nuchal translucency: a report of two affected pregnancies [J]. Ultrasound Obstet Gynecol, 2002,20 (5) : 294-295.
  • 2李启艳,汤颖聪,龚斌,孟焕新.低磷酸酶血症一例临床分析[J].中国优生与遗传杂志,2007,15(1):118-118. 被引量:2
  • 3Whyte MP. Hypophosphatasia and the role of alkaline phospha-tase in skeletal mineralization [J]. Endocr Rev,1994,15(4):439-461.
  • 4Mornet E. Hypophosphatasia [J]. Orphanet J Rare Diseases, 2007,4 (2) : 40.
  • 5Moore CA, Ward JC, Rivas ML, et ol. Infantile hypo-phosphatasia: autosomal recessive transmission to two related sibships [J]. Am J Med Genet,1990,36 (1):15- 22.
  • 6Caswell A, Whyte MP, Russell RG. Hypophosphatasia and the extracellular metabolism of inorganic pyrophos- phate: clinical and laboratory aspects [J]. Crit Rev Clin Lab Sci, 1991,28(3) : 175-232.
  • 7Ramage I J, Howatson A J, Beattie TJ. Hypophosphatasia [J]. J Clin Pathol, 1996,49(8) :682-684.
  • 8Mornet E. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene [J]. Hum Mutat, 2000,15(4) :309-315.
  • 9Whyte MP, Kurtzberg J, McAlister WH, et al. Marrow cell transplantation for infantile hypophosphatasia [J]. J Bone Miner Res,2003, 18(4) :624-636.

二级参考文献2

  • 1王平芳.磷酸酶病.见廖二元,谭利华,主编.代谢性骨病学[M].第一版.北京:人民卫生出版社,2003,955-965.
  • 2Van den Bos T, Handoko G, Niehof A, et al. Cementum and dentin in hypophosphatasia[ J]. J Dent Res. 2005,84:1021 -1025.

共引文献1

同被引文献22

  • 1Silva I, Castelao W, Mateus M, et al. Childhood hypophosphatasia with myopathy: clinical report with recent update [ J]. Acta Reumatol Port, 2012, 37(1): 92-96.
  • 2Morner E. Hypophosphatasia [ J]. Best Praet Res Clin Rheumatol, 2008, 22(1) : 113 -127.
  • 3Mornet E, Yvard A, Taillandier A, et al. A molecular - based esti- mation of the prevalence of hypophosphatasia in the European popula- tion [J]. Ann HumGenet, 2011, 75(3):439-445.
  • 4Watanabe A, Karasugi T, Sawai H, et al. Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on hetero- zygous carriers [J]. J Hum Genet, 2011, 56(2): 166- 168.
  • 5冀垫.ALPL基因突变影响ADRB2基因调控BMMSCs成骨分化的实验研究[D].西安:第四军医大学,2013.
  • 6Yang H, Wang L, Geng J, et al. Characterization of six missense mu- tations in the tissue - nonspeeifie alkaline phosphatase (ALPL) gene in Chinese children with hypophosphatasia [ J ]. Cell Physiol Bio- ehem, 2013, 32(3): 635-644.
  • 7Zhang H, Ke Y, Wang C, et al. Identification of the Mutations in the Tissue - nonspecific Alkaline Phosphatase Gene in Two Chinese Fami- lies with Hypophosphatasia [ J]. Arch Med Res, 2012, 43 (1) : 21 - 30.
  • 8Chang KC, Lin PH, Su YN, et al. Novel heterozygous tissue - non- specific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia [ J]. J Bone Miner Metab, 2012, 30 ( 1 ) : 109 - 113.
  • 9Liu H, Li J, Lei H, et al. Genetic etiology and dental pulp cell defi- ciency of hypophosphatasia [ J]. J Dent Res , 2010, 89 (12) : 1373 - 1377.
  • 10伍金林,陈娟,丘力,陈永秀,弓晓媛.新生儿型低磷酸酯酶症一例[J].中华医学遗传学杂志,2008,25(1):44-44. 被引量:2

引证文献3

二级引证文献13

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