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OA北大核心CSTPCD

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.