Bone Abstracts

Objective: Nephropathic cystinosis is an orphan autosomal recessive lysosomal storage disease characterized by a deficiency of cystinosin, a cysteine transporter protein, encoded by CTNS. As a consequence of the disease cystine crystals accumulate leading to tissue damage, primarily in kidney and cornea. With improved medical care, new challenges like skeletal complications are a matter of concern. Only few data are available dealing with bone development. The aim of our study...