Mineral Metabolism

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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