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Heredity and Genetic Defects and Metabolic Disorders Lead to Deformity

  • Sihe Qin

摘要

Hypophosphatemic rickets (HR), also known as hypophosphatemic vitamin D-resistant rickets, is a disease characterized by low blood phosphorus, bone pain, and limb fatigue. In adults, the disease involves only the bones and is called osteomalacia. In children, the disease also occurs in the growth plate and cartilage to be mineralized, resulting in characteristic skeletal deformities. The disease is mainly related to heredity. Hereditary hypophosphatemic rickets can be divided into X-linked dominant hypophosphatemic rickets (XLH), autosomal dominant hypophosphorous rickets (ADHR), autosomal recessive hypophosphorous rickets (ARHR), hypophosphatic rickets with hyperparathyroidism (HRHPT), McCune-Albright syndrome (MAS), osteoglophonic dysplasia (OGD), etc.