Osteoporosis in childhood :

Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to “private” found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley-Liss, Inc.

The pediatrician plays a major role in helping optimize bone health in children and adolescents. This clinical report reviews normal bone acquisition in infants, children, and adolescents and discusses factors affecting bone health in this age group. Previous recommended daily allowances for calcium and vitamin D are updated, and clinical guidance is provided regarding weight-bearing activities and recommendations for calcium and vitamin D intake and supplementation. Routine calcium supplementation is not recommended for healthy children and adolescents, but increased dietary intake to meet daily requirements is encouraged. The American Academy of Pediatrics endorses the higher recommended dietary allowances for vitamin D advised by the Institute of Medicine and supports testing for vitamin D deficiency in children and adolescents with conditions associated with increased bone fragility. Universal screening for vitamin D deficiency is not routinely recommended in healthy children or in children with dark skin or obesity because there is insufficient evidence of the cost-benefit of such a practice in reducing fracture risk. The preferred test to assess bone health is dual-energy x-ray absorptiometry, but caution is advised when interpreting results in children and adolescents who may not yet have achieved peak bone mass. For analyses, z scores should be used instead of T scores, and corrections should be made for size. Office-based strategies for the pediatrician to optimize bone health are provided. This clinical report has been endorsed by American Bone Health.

Osteoporosis is a common disorder, affecting hundreds of millions of people worldwide, and characterized by decreased bone mineral density and increased fracture risk. Known nonheritable risk factors for primary osteoporosis include advanced age, sex-steroid deficiency and increased oxidative stress. Age is a nonmodifiable risk factor, but the influence of a person's lifestyle (diet and physical activity) on their bone structure and density is modifiable to some extent. Heritable factors influencing bone fragility can be monogenic or polygenic. Osteogenesis imperfecta, juvenile osteoporosis and syndromes of decreased bone density are discussed as examples of monogenic disorders associated with bone fragility. So far, the factors associated with polygenic osteoporosis have been investigated mainly in genome-wide association studies. However, epigenetic mechanisms also contribute to the heritability of polygenic osteoporosis. Identification of these heritable and nonheritable risk factors has already led to the discovery of therapeutic targets for osteoporosis, which emphasizes the importance of research into the pathogenetic mechanisms of osteoporosis. Accordingly, this article discusses the many heritable and nonheritable factors that contribute to the pathogenesis of primary osteoporosis. Although osteoporosis can also develop secondary to many other diseases or their treatment, a discussion of the factors that contribute only to secondary osteoporosis is beyond the scope of this Review.