Metabolic bone disease in children includes many hereditary and acquired conditions of diverse etiology that lead to disturbed metabolism of the bone tissue. Some of these processes primarily affect bone; others are secondary to
nutritional deficiencies, a variety of chronic disorders, and/or treatment with some drugs. Some of these disorders are rare, but some present public health concerns (for instance,
rickets) that have been well known for many years but still persist. The most important clinical consequences of bone
metabolic diseases in the pediatric population include reduced linear growth, bone deformations, and non-traumatic fractures leading to bone
pain, deterioration of motor development and disability. In this article, we analyze primary and secondary
osteoporosis,
rickets,
osteomalacia (nutritional and hereditary
vitamin D-dependent, hypophosphatemic and that due to renal tubular abnormalities),
renal osteodystrophy, sclerosing bony disorders, and some genetic
bone diseases (
hypophosphatasia, fibrous dysplasia, skeletal dysplasia,
juvenile Paget disease,
familial expansile osteolysis, and
osteoporosis pseudoglioma syndrome). Early identification and treatment of potential risk factors is essential for skeletal health in adulthood. In most conditions it is necessary to ensure an appropriate diet, with
calcium and
vitamin D, and an adequate amount of physical activity as a means of prevention. In secondary
bone diseases, treatment of the primary disorder is crucial. Most
genetic disorders await prospective gene
therapies, while
bone marrow transplantation has been attempted in other disorders. At present, affected patients are treated symptomatically, frequently by interdisciplinary teams. The role of exercise and pharmacologic
therapy with
calcium,
vitamin D,
phosphate,
bisphosphonates,
calcitonin,
sex hormones,
growth hormone, and
thiazides is discussed. The perspectives on future
therapy with
insulin-like growth factor-1, new analogs of
vitamin D,
strontium,
osteoprotegerin, and calcimimetics are presented.