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Ewert, Annika; Leifheit-Nestler, Maren; Hohenfellner, Katharina; Büscher, Anja; Kemper, Markus J; Oh, Jun; Billing, Heiko; Thumfart, Julia; Stangl, Gabriele; Baur, Anja C; Föller, Michael; Feger, Martina; Weber, Lutz T; Acham-Roschitz, Birgit; Arbeiter, Klaus; Tönshoff, Burkhard; Zivicnjak, Miroslav; Haffner, Dieter

Bone and Mineral Metabolism in Children with Nephropathic Cystinosis Compared with other CKD Entities

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  • Media type: E-Article
  • Title: Bone and Mineral Metabolism in Children with Nephropathic Cystinosis Compared with other CKD Entities
  • Contributor: Ewert, Annika; Leifheit-Nestler, Maren; Hohenfellner, Katharina; Büscher, Anja; Kemper, Markus J; Oh, Jun; Billing, Heiko; Thumfart, Julia; Stangl, Gabriele; Baur, Anja C; Föller, Michael; Feger, Martina; Weber, Lutz T; Acham-Roschitz, Birgit; Arbeiter, Klaus; Tönshoff, Burkhard; Zivicnjak, Miroslav; Haffner, Dieter
  • imprint: The Endocrine Society, 2020
  • Published in: The Journal of Clinical Endocrinology & Metabolism
  • Language: English
  • DOI: 10.1210/clinem/dgaa267
  • ISSN: 0021-972X; 1945-7197
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title> <jats:sec> <jats:title>Context</jats:title> <jats:p>Children with nephropathic cystinosis (NC) show persistent hypophosphatemia, due to Fanconi syndrome, as well as mineral and bone disorders related to chronic kidney disease (CKD); however, systematic analyses are lacking.</jats:p> </jats:sec> <jats:sec> <jats:title>Objective</jats:title> <jats:p>To compare biochemical parameters of bone and mineral metabolism between children with NC and controls across all stages of CKD.</jats:p> </jats:sec> <jats:sec> <jats:title>Design</jats:title> <jats:p>Cross-sectional multicenter study.</jats:p> </jats:sec> <jats:sec> <jats:title>Setting</jats:title> <jats:p>Hospital clinics.</jats:p> </jats:sec> <jats:sec> <jats:title>Patients</jats:title> <jats:p>Forty-nine children with NC, 80 CKD controls of the same age and CKD stage.</jats:p> </jats:sec> <jats:sec> <jats:title>Main outcome measures</jats:title> <jats:p>Fibroblast growth factor 23 (FGF23), soluble Klotho, bone alkaline phosphatase (BAP), tartrate-resistant acid phosphatase 5b (TRAP5b), sclerostin, osteoprotegerin (OPG), biochemical parameters related to mineral metabolism, and skeletal comorbidity.</jats:p> </jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>Despite Fanconi syndrome medication, NC patients showed an 11-fold increased risk of short stature, bone deformities, and/or requirement for skeletal surgery compared with CKD controls. This was associated with a higher frequency of risk factors such as hypophosphatemia, hypocalcemia, low parathyroid hormone (PTH), metabolic acidosis, and a specific CKD stage-dependent pattern of bone marker alterations. Pretransplant NC patients in mild to moderate CKD showed a delayed increase or lacked an increase in FGF23 and sclerostin, and increased BAP, TRAP5b, and OPG concentrations compared with CKD controls. Post-transplant, BAP and OPG returned to normal, TRAP5b further increased, whereas FGF23 and PTH were less elevated compared with CKD controls and associated with higher serum phosphate.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>Patients with NC show more severe skeletal comorbidity associated with distinct CKD stage-dependent alterations of bone metabolism than CKD controls, suggesting impaired mineralization and increased bone resorption, which is only partially normalized after renal transplantation.</jats:p> </jats:sec>
  • Access State: Open Access