FGF23基因突变致低血磷性佝偻病一例报告OA北大核心CSTPCD

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.