Abstract
This chapter examines bone physiology and biochemistry and the diseases that result from disturbed function. Some disorders such as rickets and osteoporosis are comparatively common in children and every general practitioner will be familiar with them. However, others such as rare genetic bone diseases, or osteogenesis imperfecta (OI), are disorders seen perhaps once or twice in a professional lifetime. Nonetheless, metabolic bone disease is a significant cause of morbidity and even mortality in children. The advent of new genetic discoveries has also brought forth new treatments for previously intractable diseases such as hypophosphatasia, or X-linked hypophosphataemic rickets and these are discussed. The difficult topic of recurrent fractures and diagnosis and management of OI is covered in detail.
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References
Gómez-Alonso C. Paediatric metabolic bone disease: a lifetime ahead. Adv Ther. 2020;37:38–46.
Jones M, Boon W, McInnes K, et al. Recognizing rare disorders: aromatase deficiency. Nat Rev Endocrinol. 2007;3:414–21.
Norman AW. The history of the discovery of vitamin D and its daughter steroid hormone. Ann Nutr Metab. 2012;61:199–206.
Pai B, Shaw N. Understanding rickets. Paediatr Child Health. 2016;25(7):325–31.
International Society for Clinical Densitometry. Skeletal Health Assessment in Children From Infancy to Adolescence. 2019.
Sarraff V, Hogler W. Osteoporosis in children. Eur J Endocrinol. 2015;173:R185–97.
Bachrach LK, Catherine M, Gordon and Section on Endocrinology. Bone densitometry in children and adolescents. Pediatrics. 2016;138:e20162398.
Ralston SH, Gaston MS. Management of Osteogenesis Imperfecta. Front Endocrinol. 2020;
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Nugud, A., Nugud, A., Alshryda, S., Thalange, N. (2021). Metabolic Bone Disease. In: Alshryda, S., Jackson, L., Thalange, N., AlHammadi, A. (eds) Pediatric Orthopedics for Primary Healthcare. Springer, Cham. https://doi.org/10.1007/978-3-030-65214-2_7
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DOI: https://doi.org/10.1007/978-3-030-65214-2_7
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