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Bone and mineral metabolism in children with nephropathic cystinosis compared with other CKD entities

Journal of Clinical Endocrinology & Metabolism Jun 16, 2020

Ewert A, Leifheit-Nestler M, Hohenfellner K, et al. - In this cross-sectional multicenter study, researchers contrasted biochemical parameters of bone and mineral metabolism between children with nephropathic cystinosis (NC) and controls across all stages of chronic kidney disease (CKD). The sample consisted of 49 children with NC and 80 CKD controls of the same age and CKD stage. Despite medication for Fanconi syndrome, NC patients showed an 11-fold increased risk of short stature, bone deformities and/or skeletal surgery requirement compared with CKD controls. This was associated with a higher prevalence of risk factors like hypophosphatemia, hypocalcemia, low parathyroid hormone (PTH), metabolic acidosis, and a specific CKD stage-dependent pattern of bone marker alterations. NC patients show more severe skeletal comorbidity associated with distinct CKD stage-dependent bone metabolism alterations than CKD controls, indicating impaired mineralization and increased bone resorption, which is only partially normalized after renal transplantation.

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