Mineral Metabolism  (矿物质代谢)

矿物质代谢紊乱是指钙、磷、镁等必需矿物质的调节异常，导致失衡，进而影响骨骼健康、激素功能和整体代谢稳态。这类疾病的特征是骨骼（尤其是骨骺生长板）矿化缺陷，从而导致佝偻病、骨质疏松症和佩吉特病等疾病。它们常与肾功能障碍有关，而维生素D缺乏、成纤维细胞生长因子23 (FGF-23) 升高和甲状旁腺激素 (PTH) 水平改变会加剧矿物质紊乱。临床表现包括骨质疏松或骨质疏松、骨骼发育异常、肌肉无力、痉挛、疲劳以及体液和电解质失衡、贫血等全身并发症。诊断依赖于临床评估、实验室检查、影像学检查，有时还需要活检。治疗包括饮食调整、营养补充剂、药物纠正矿物质和激素失衡以及物理治疗。关键遗传因素，例如 CASR 基因突变，以及涉及维生素 D 受体信号传导和类固醇代谢的通路，都会导致疾病的发生。肾脏和骨骼是主要受影响的组织，这凸显了矿物质稳态在骨骼完整性和全身健康中的关键作用。

Mineral metabolism disorders involve abnormalities in the regulation of essential minerals such as calcium, phosphorus, and magnesium, leading to imbalances that affect bone health, hormonal function, and overall metabolic homeostasis. These disorders are characterized by defective mineralization of bone, particularly in the epiphyseal growth plate, resulting in conditions like rickets, osteoporosis, and Paget’s disease. They are frequently associated with renal dysfunction, where vitamin D deficiency, elevated fibroblast growth factor 23 (FGF-23), and altered parathyroid hormone (PTH) levels exacerbate mineral disturbances. Clinical manifestations include weak or brittle bones, abnormal bone development, muscle weakness, cramps, fatigue, and systemic complications such as fluid and electrolyte imbalances and anemia. Diagnosis relies on clinical evaluation, laboratory tests, imaging, and sometimes biopsy. Management involves dietary modifications, supplementation, pharmacological correction of mineral and hormonal imbalances, and physical therapy. Key genetic factors, such as mutations in the CASR gene, and pathways involving vitamin D receptor signaling and steroid metabolism contribute to disease pathogenesis. The kidneys and bones are primary affected tissues, underscoring the critical role of mineral homeostasis in skeletal integrity and systemic health.

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