疾病卡片低磷性佝偻病

低磷性佝偻病

(HypophosphatemicRickets,HR)

低磷性佝偻病是儿童常见的代谢性骨病,是由于遗传性或获得性的原因致使肾小管对磷酸盐的重吸收障碍,大量磷从尿中丢失,导致血磷降低和骨矿化障碍所致的一组骨骼疾病。

该病的遗传方式多变,包括常染色体隐性、常染色体显性、X连锁显性、X连锁隐性。据国外报道,新生儿发病率为1:。

参考文献:

[1]厦门医学检验实验室.基源黄宝书.:

[2]NCBIGeneReviews.

[3]ADHRConsortium.AutosomaldominanthypophosphataemicricketsisassociatedwithmutationsinFGF23.NatureGenet.26:-,.

[4]Bolino,A.,Devoto,M.,Enia,G.,Zoccali,C.,Weissenbach,J.,Romeo,G.GeneticmappingintheXp11.2regionofanewformofX-linkedhypophosphatemicrickets.Europ.J.Hum.Genet.1:-,.[5]GaucherC,Walrant-DebrayO,NguyenTM,EsterleL,GarabédianM,JehanF.PHEXanalysisinpedigreesrevealsnewgeneticcluesinhypophosphatemicrickets.HumGenet.;:–11.

[6]DavidV,MartinA,HedgeAM,DreznerMK,RowePS.ASARMpeptides:PHEX-dependentand-independentregulationofserumphosphate.AmJPhysiolRenalPhysiol.;:F–91.

[7]Beck-NielsenSS,Brock-JacobsenB,GramJ,etal.IncidenceandprevalenceofnutritionalandhereditaryrickestinsouthernDenmark.EurJEndocrinol,,:-.

[8]HuangX,JiangY,XiaW.FGF23andphosphatewastingdisorders.BoneRes,,1(2):-.

[9]SunY1,WangO,XiaW,etal.FGF23analysisofaChinesefamilywithautosomaldominanthypophosphatemicrickets.JBoneMinerMetab,,30(1):78-84.

[10]BeckNielsenSS,BrusgaardK,RasmussenLM,etal.Phenotypepresentationofhypophosphatemicricketsinadults.CalcifTissueInt,,87(2):-.

[11]罕见病诊疗指南之低血磷性佝偻病.罕见病新进展



转载请注明地址:http://www.huangshukuia.com/hkzz/6654.html
  • 上一篇文章:
  • 下一篇文章:
  • 热点文章

    • 没有热点文章

    推荐文章

    • 没有推荐文章