Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp5 | Clinical case posters | ECTS2013

Late onset autosomal dominant hypophosphatemic rickets; confirmation of the diagnosis with genomic analysis

Tournis Symeon , Stathopoulos Ioannis , Lampropoulou-Adamidou Kalliopi , Koromila Theodora , Chatzistamatas Nikolaos , Droggaris Michail , Zafeiris Christos , Makris Konstantinos , Marketou Helen , Papaioannou Nikolaos , Kollia Panagoula , Gazi Gazi

Introduction: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare form of inherited isolated renal phosphate wasting with two distinct clinical phenotypes; early-onset and late-onset. Late-onset ADHR is characterized by normal phosphate levels and growth during childhood, followed by osteomalacia with bone pain, pseudofractures and weakness in adolescence or adulthood, but with no lower extremity deformities. Most of the late-onset ADHR patients are women and pregnanc...