Pablo Florenzano, Carlos Ferreira, Galina Nesterova, Mary Scott Roberts, Sri Harsha Tella, Luis Fernandez de Castro, Sydney M Brown, Adom Whitaker, Renata C Pereira, Dorothy Bulas, Rachel I Gafni, Isidro B Salusky, William A Gahl, Michael T Collins
Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the frequency and severity of skeletal disorders in nephropathic cystinosis have not been described. We performed systematic bone and mineral evaluations of subjects with cystinosis seen at the NIH (n = 30), including history and physical examination, serum and urine biochemistries, DXA, vertebral fracture assessment, skeletal radiographs, and renal ultrasound...
October 2018: Journal of Bone and Mineral Research