Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study

Martine Cools,S Goemaere,Dorien Baetens,Adam L Raes,An Desloovere,J M Kaufman,J De Schepper,I Jans,Dirk Vanderschueren,Jaak Billen,E De Baere,Tom Fiers,Roger Bouillon

Bone（2015）

引用 55|浏览15

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摘要

•Most heterozygous carriers of CYP24A1 mutations do not seem to experience health problems or biochemical abnormalities.•A highly increased 25OHD/24,25(OH)2D ratio may be predictive of experiencing symptoms of hypercalcemia and/or hypercalciuria, irrespective of carriership status.•The incidence of nephrolithiasis and/or nephrocalcinosis may be increased in heterozygous carriers of CYP24A1 mutations.

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关键词

1,25-(OH)2D,24,25(OH)2D,25OHD,Vitamin D,aBMD,vBMD,CYP24A1,DXA,FGF-23,GWAS,IIH,LC MS/MS,pQCT,PTH

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