Bone Abstracts

Objective: Cystinosis is a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding for cystinosin symporter that mediates cysteine efflux from lysosome. ~95% of cystinotic patients display nephropathic Fanconi’s syndrome, short stature, osteopenia and rickets. In this study we evaluated whether the absence of cystinosin primarily affects bone remodeling activity.Methods: We analyzed bone phen...

Objectives: Gorham-Stout disease (GSD) is a very rare disorder characterized by extensive angiomatous proliferation and progressive osteolysis without new bone formation. Only ~200 patients were reported. The quality of life is very poor since patients display pain, fractures, functional impairment and swelling of the affected regions. The ethiology of GSD is unknown. We aim to investigate the bone phenotype and to identify molecular and cellular defects in GSD patients.<p...