中华骨质疏松和骨矿盐疾病杂志2024，Vol.17Issue(6)：597-603,7.DOI:10.3969/j.issn.1674-2591.2024.06.008
FGF23基因突变致常染色体显性遗传性低磷骨软化症家系报告
A family of autosomal dominant hypophosphatemic osteomalacia with FGF23 mutation
摘要
Abstract
This article reports a 14-year-old woman who was diagnosed as autosomal dominant hypophos-phatemic osteomalacia(ADHR).The patient presented with bone pain,muscle weakness,and hypophosphatemia.Ge-netic testing showed a missense mutation in the coding region of the FGF23,C.535C＞T,resulting in a change from ar-ginine(Arg)at position 179 to tryptophan(p.Arg179Trp).Parents and younger brother of the patient did not have similar phenotypes,and genetic testing was normal.The proband received treatment with calcitriol and ferrous succinate for one month,and the symptoms of bone pain improved.After six months,blood phosphorus levels were normal and muscle weakness improved.Through literature review,the clinical manifestations and diagnosis and treatment character-istics of ADHR were further summarized,enriching the clinical understanding of ADHR as a rare disease among clinical doctors.关键词
常染色体显性遗传性低磷骨软化症/成纤维生化因子23/低磷血症/铁缺乏/青少年Key words
autosomal dominant hypophosphatemic rickets/fibroblast growth factor 23/hypophosphatemia/iron deficiency/adolescent分类
医药卫生引用本文复制引用
王晨秀,林安华,何文静,黄水金,童露露,邓颖,张娜,霍亚南..FGF23基因突变致常染色体显性遗传性低磷骨软化症家系报告[J].中华骨质疏松和骨矿盐疾病杂志,2024,17(6):597-603,7.基金项目
江西省卫生健康委科技计划(20203018) （20203018）
国家重点研发计划(2021YFC2501701,2021YFC2501703) （2021YFC2501701,2021YFC2501703）
北京协和医院中央高水平医院临床科研专项(揭榜挂帅重大攻关计划2022-PUMCH-D-006) （揭榜挂帅重大攻关计划2022-PUMCH-D-006）
江西省医学领先学科建设项目——老年医学(骨质疏松) （骨质疏松）
