Imaging of renal osteodystrophy.

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Abstract

[Indexed for MEDLINE] 18. Nat Rev Endocrinol. 2022 Aug;18(8):473-489. doi: 10.1038/s41574-022-00682-7. Epub 2022 May 16. Skeletal and extraskeletal disorders of biomineralization. Collins MT(#)(1), Marcucci G(#)(2), Anders HJ(3), Beltrami G(4), Cauley JA(5), Ebeling PR(6), Kumar R(7), Linglart A(8), Sangiorgi L(9), Towler DA(10), Weston R(11), Whyte MP(12)(13), Brandi ML(14), Clarke B(15), Thakker RV(16). Author information: (1)Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, USA. mcollins@dir.nidcr.nih.gov. (2)Bone Metabolic Diseases Unit, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy. (3)Department of Medicine IV, Hospital of the University of Munich, Ludwig-Maximilians University, Munich, Germany. (4)Department Paediatric Orthopedic Oncology, Careggi and Meyer Children Hospital, Florence, Italy. (5)Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. (6)Department of Medicine, School of Clinical Sciences, Monash University, Melbourne, Australia. (7)Departments of Medicine, Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA. (8)APHP, Endocrinologie et diabète de l'enfant, Paris, France. (9)Medical Genetics and Skeletal Rare Diseases, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. (10)University of Texas Southwestern Medical Center, Dallas, TX, USA. (11)Cardiovascular Research Group, Manchester Metropolitan University, Manchester, UK. (12)Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St Louis, St Louis, MO, USA. (13)Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO, USA. (14)F.I.R.M.O. Foundation, Florence, Italy. (15)Mayo Clinic Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, MN, USA. (16)Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK. (#)Contributed equally Erratum in Nat Rev Endocrinol. 2023 Jan;19(1):62. doi: 10.1038/s41574-022-00768-2. The physiological process of biomineralization is complex and deviation from it leads to a variety of diseases. Progress in the past 10 years has enhanced understanding of the genetic, molecular and cellular pathophysiology underlying these disorders; sometimes, this knowledge has both facilitated restoration of health and clarified the very nature of biomineralization as it occurs in humans. In this Review, we consider the principal regulators of mineralization and crystallization, and how dysregulation of these processes can lead to human disease. The knowledge acquired to date and gaps still to be filled are highlighted. The disorders of mineralization discussed comprise a broad spectrum of conditions that encompass bone disorders associated with alterations of mineral quantity and quality, as well as disorders of extraskeletal mineralization (hyperphosphataemic familial tumoural calcinosis). Included are disorders of alkaline phosphatase (hypophosphatasia) and phosphate homeostasis (X-linked hypophosphataemic rickets, fluorosis, rickets and osteomalacia). Furthermore, crystallopathies are covered as well as arterial and renal calcification. This Review discusses the current knowledge of biomineralization derived from basic and clinical research and points to future studies that will lead to new therapeutic approaches for biomineralization disorders. © 2022. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply. DOI: 10.1038/s41574-022-00682-7