Abstract
The human skeleton is composed of bone, a living tissue that undergoes constant development throughout life. It is well established that changes in bone metabolism during the developmental stages of growth, modelling and remodelling determine long-lasting physiological parameters, such as final height achieved, peak bone mass, bone quality and bone health. A complex interplay of environmental, genetic, nutritional, physiological and behavioural factors plays a role in these processes. These modifiable and non-modifiable factors influence skeletal development and bone quality, as well as the occurrence of clinical conditions during adulthood, such as osteoarthritis and osteoporosis.
Highlights
The human skeleton serves multiple essential functions that include providing support for the rest of the body; providing levers for the muscles to allow movement and locomotion; protecting vital internal organs and structures; providing maintenance of mineral homeostasis and the acid-base balance; serving as a reservoir of growth factors and cytokines; and providing an environment for haematopoiesis within the marrow spaces [1]
Measuring skeletal growth and body proportions as well as evaluating skeletal radiographs are useful for identifying and diagnosing children with short stature or growth disorders; the projected adult height of children is compared with the ‘target height’ or genetic height based on parental height [2]
X-linked hypophosphataemia (XLH) is primarily characterized by chronic hypophosphataemia, which in addition to other disease factors such as changes in tissue non-specific alkaline phosphatase, pyrophosphate, calcitriol, the direct impact of fibroblast growth factor 23 (FGF23) and compromised activity of the Phosphate-Regulating Endopeptidase Homolog X-Linked (PHEX) protein, exerts deleterious effects on bone development
Summary
The human skeleton serves multiple essential functions that include providing support for the rest of the body; providing levers for the muscles to allow movement and locomotion; protecting vital internal organs and structures; providing maintenance of mineral homeostasis and the acid-base balance; serving as a reservoir of growth factors and cytokines; and providing an environment for haematopoiesis within the marrow spaces [1]. XLH is primarily characterized by chronic hypophosphataemia, which in addition to other disease factors such as changes in tissue non-specific alkaline phosphatase, pyrophosphate, calcitriol, the direct impact of FGF23 and compromised activity of the PHEX protein, exerts deleterious effects on bone development These include reduced longitudinal growth, impaired bone mineralization, osteoid accumulation leading to osteomalacia, and an increase in skeletal osteopontin deposition contributing to the local inhibition of bone mineralization [3,68]. The primary determinant for epiphyseal closure is timing of puberty and this step marks the end of longitudinal growth of the long bones and vertebrae and the attainment of final height [15,102]. Current practice utilizes normal population growth charts with extended SD-lines down to -5SDS to track children with extreme short stature
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