Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p156 | (1) | ICCBH2019

Patients with nephropatic cystinosis display lower cortical thickness and grip strength

Bechtold-Dalla Pozza Susanne , Froschauer Sonja , Harms Erik , Herzig Nadine , Holla Heike , Knerr C , Koeppel Christian , Landthaler I , Prilinger C , Steidle G , Vill Katharina , Treikauskas Ulrike , Hohenfellner Katharina

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...