hrp0084p1-22 | Bone | ESPE2015

Evaluation of Bone Mineral Density and Microarchitectural Parameters by DXA and HR-PQCT in 36 X-linked Hypophosphatemic Rickets Patients from a Single-Centre Study

Neto Guido de Paula Colares , Pereira Rosa Maria Rodrigues , Alvarenga Jackeline Couto , Takayama Liliam , Funari Mariana Ferreira de Assis , Martin Regina Matsunaga

Background: Previous studies evaluating bone quality and microarchitecture in X-linked hypophosphatemic rickets (XLH) have produced conflicting data.Objective and hypotheses: To evaluate the bone mineral density (BMD) and microarchitecture in 36 XLH patients (13 children and 23 adults) with confirmed PHEX mutations compared to healthy controls.Method: The areal BMD (aBMD) at lumbar spine (L1-L4), femoral neck, total hip an...

hrp0084p2-218 | Bone | ESPE2015

Nephrocalcinosis and Nephrolithiasis in 36 X-Linked Hypophosphataemic Rickets Patients: Diagnostic Imaging and Evaluation of Risk Factors in a Single-Centre Study

Neto Guido de Paula Colares , Yamauchi Fernando Ide , Baroni Ronaldo Hueb , Fontenele Igor , Gomes Andrea Cavalanti , Chammas Maria Cristina , Matsunaga Regina

Background: X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). In this group of patients, data about renal calcifying disorders are scarce.Objective and hypotheses: To determine the prevalence of nephrocalcinosis and nephrolithiasis and their risk factors in XLH patients.Method: 36 patients (15 children a...