中华骨质疏松和骨矿盐疾病杂志2024，Vol.17Issue(3)：246-251,6.DOI:10.3969/j.issn.1674-2591.2024.03.007
FGF23基因突变致低血磷性佝偻病一例报告
Hypophosphatemic rickets with FGF23 gene mutation:a case report
刁雪 1罗明娟 1梁伟1
作者信息
- 1. 518000 广东深圳,香港大学深圳医院内分泌科
- 折叠
摘要
Abstract
Hypophosphatemic rickets/osteomalacia is a group of bone mineralization disorders characterized by hypophosphatemia with hereditary or acquired causes,which is called rickets in children and is called osteomalacia in a-dults.The clinical manifestations of the pediatric patients are skeletal abnormalities including rickets and growth disorders.The main symptoms of adult patients are bone pain,arthritis and limited mobility.In this article,a young patient and her mother with autosomal dominant hypophosphatemic rickets(ADHR)caused by FGF23 gene mutation were reported.After 2 months of treatment with oral phosphorus supplementation and calcitriol,there was no significant increase in blood phos-phorus,and the improvement of bone pain was unsatisfactory.Ferrous succinate was orally administered additionally for 2 months,and the blood phosphorus returned to normal.Then the phosphorus supplement was discontinued and only oral ferrous succinate was continued,with the blood phosphorus increased and bone pain significantly alleviated.关键词
常染色体显性遗传性低血磷性佝偻病/低血磷性骨软化症/FGF23基因/低磷血症Key words
autosomal dominant hypophosphatemic rickets/hypophosphatemic osteomalacia/FGF23 gene/hy-pophosphatemia分类
医药卫生引用本文复制引用
刁雪,罗明娟,梁伟..FGF23基因突变致低血磷性佝偻病一例报告[J].中华骨质疏松和骨矿盐疾病杂志,2024,17(3):246-251,6.
