Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp3 | Clinical case posters | ECTS2013

The possibility rule of new mutations in juvenile Paget's disease (A rare case of mild JPD)

Donath Judit , Speer Gabor , Kosa Janos , Lakatos Peter , Poor Gyula

Background: Juvenile Paget’s disease (JPD) is a rare autosomal-recessive condition. The disease is typically diagnosed in infants or young children and characterized by a generalized increased in bone turnover, bone pain, skeletal deformity and increased risk of pathological fractures. In our knowledge, inactivating mutations in the TNFRSF11B gene, which encodes osteoprotegerin, cause JPD, yet. There are no randomized controlled trials which to offer the optimal form of t...