Review of the dental implications of X-linked hypophosphataemic rickets (XLHR).

Journal and index pages often block iframe embedding. This reader keeps the evidence details in Orthonotes and leaves the source page one click away.

Abstract

[Indexed for MEDLINE] 11. J Bone Miner Res. 2018 Oct;33(10):1870-1880. doi: 10.1002/jbmr.3522. Epub 2018 Jul 20. Skeletal Consequences of Nephropathic Cystinosis. Florenzano P(1)(2), Ferreira C(3), Nesterova G(3), Roberts MS(1), Tella SH(1), de Castro LF(1), Brown SM(1), Whitaker A(1), Pereira RC(4), Bulas D(5), Gafni RI(1), Salusky IB(4), Gahl WA(3), Collins MT(1). Author information: (1)Section on Skeletal Disorders and Mineral Homeostasis, National Institutes of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA. (2)Endocrinology Department, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile. (3)Medical Genetics Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, USA. (4)Division of Nephrology, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA. (5)Division of Radiology, Children's National Health System, Washington, DC, USA. 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. Additionally, histomorphometric analyses are reported on six subjects seen at the UCLA Bone and Mineral Metabolism Clinic. In NIH subjects, mean age was 20 years (range, 5 to 44 years), 60% were CKD stages G1 to G4, and 40% had a renal transplant. Mean bone mineral density (BMD) Z-scores were decreased in the femoral neck, total hip, and 1/3 radius (p