RESUMO
Objective To explore the causes,clinical characteristics and new measurements concerning with diagnosis and treatment of hypophosphatemic rickets.Methods Thirty children with hypophosphatemic rickets had been diagnosed and treated in our hospital from 1996 to 2005.Clinical data were retrospectively analyzed,including family history(the attack rates of parents and styles of inheritances),clinial characteristics(the attack ages and severity of skeletal developing malformation),serum biochemistry(plasma calcium,phosphate and alkaline phosphatase level),and X-ray in bones and treatment methods.Results All these patients presented with typical manifestations and signs of rickets.The minimum age of definitive diagnosis of hypophosphatemic rickets was 1.5 years old;the maximal age was 10 years old.All of 30 cases had failed to conventional treatment of vitamin D(VitD) deficient rickets for 6 months.Early supply of phosphate,VitD and calcium could effectively improve the outcomes of patients.Patients diagnosed and treated before 2 years old had better prognosis,while that diagnosed and treated later than 5 years old would be result in severe skeletal malformation.Conclusions It is difficult to distinguish hypophosphatemic rickets from VitD deficient rickets.It is very important that misdiagnosis of this disease usually leads to severe skeletal malformation.Early diagnosis and treatment can effectively improve the skeletal development of patients.