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.

生物矿化的生理过程是复杂的，偏离它会导致多种疾病。过去 10 年的进展加强了对这些疾病背后的遗传、分子和细胞病理生理学的理解；有时，这种知识既促进了健康的恢复，又阐明了发生在人类身上的生物矿化的本质。在这篇综述中，我们考虑了矿化和结晶的主要调节因子，以及这些过程的失调如何导致人类疾病。强调了迄今为止获得的知识和仍有待填补的空白。所讨论的矿化障碍包括范围广泛的病症，包括与矿物质数量和质量改变相关的骨病，以及骨骼外矿化障碍（高磷血症家族性肿瘤钙质沉着症）。包括碱性磷酸酶失调（低磷酸酯酶症）和磷酸盐体内平衡（X 连锁低磷血症性佝偻病、氟中毒、佝偻病和骨软化症）。此外，结晶病以及动脉和肾钙化也包括在内。本综述讨论了从基础和临床研究中得出的生物矿化的当前知识，并指出了未来的研究，这些研究将导致生物矿化障碍的新治疗方法。包括晶体病以及动脉和肾钙化。本综述讨论了从基础和临床研究中得出的生物矿化的当前知识，并指出了未来的研究，这些研究将导致生物矿化障碍的新治疗方法。包括晶体病以及动脉和肾钙化。本综述讨论了从基础和临床研究中得出的生物矿化的当前知识，并指出了未来的研究，这些研究将导致生物矿化障碍的新治疗方法。