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A Genetic Consideration of Skeletal Disorders

  • Yong-Whee BahkEmail author
  • Soo-Kyo Chung
Chapter

Abstract

The human skeleton has the unique function of calcium storage and liberation in addition to locomotion and hematopoiesis and acting as the body framework. Under the complex homeostatic regulation of calcitonin and parathormone as well as the influence of auxiliary hormones and vitamin D, living bones are ceaselessly engaged with deposition and removal of calcium salts in the form of bone production and resorption, which are mediated by the activities of osteoblasts and osteoclasts, respectively. Basically, skeletal diseases are reflected first as quantitative changes in osseous calcium salts and serum calcium levels. The mobilization of calcium salts from and excessive deposition on bone in bone disorders, both nongenetic and genetic, may result in demineralization or decalcification and osteosclerosis, respectively. Then, with the advance of disease, pathological and anatomical skeletal changes may follow manifesting in the form of osteopenia, osteoporosis, osteolysis, sclerosis, eburnation, bone defect, growth disturbance, and deformity, either singly or in combination. Thus, in order to ideally detect bone disorders at an early stage, the calcium metabolic profile of bone must be obtained by an appropriate means before anatomical change takes place.

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Copyright information

© Springer Nature Singapore Pte Ltd. 2017

Authors and Affiliations

  1. 1.Department of Nuclear Medicine and RadiologySun Ae General HospitalSeoulSouth Korea

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