Disorders of Mineral Metabolism II. Abnormalities of Mineral Homeostasis in the Newborn, Infant, Child, and Adolescent

Clinical practice guidelines for optimizing bone health in Korean children and adolescents

“…There are primary and secondary causes of reduced bone mass and increased fracture risk ( Table 1 ). Primary osteoporosis occurs due to intrinsic skeletal defects originating from genetic or idiopathic causes, while secondary osteoporosis results from chronic systemic illnesses in children due to either the effects of the disease process on the skeleton or from treatment [ 8 , 10 , 11 ].…”

“…Type 1 is the least severe and nondeforming; type 2 is lethal in the perinatal period because of respiratory insufficiency due to multiple rib fractures; type 3 is associated with limb deformities and is progressively deforming; type 4 has an intermediate phenotype between types 1 and 3; and type 5 has a phenotype similar to that of type 4 but is associated with calcification of interosseous membranes and hypertrophic callus formation at healing fracture sites. The most common mutations in all types are found in COL1A1 and COL1A2 , but novel mutations in other genes have been found ( Table 2 ) [ 10 ].…”

“…The clinical manifestations include bone pain and fractures with minimal trauma in girls or boys aged 8–12 years. Symptom severity tends to abate spontaneously with variable residual manifestations [ 10 , 12 ]. Differential diagnosis of osteogenesis imperfecta and idiopathic juvenile osteoporosis is shown in Table 3 .…”

“…Its clinical manifestations include severe visual impairment, bone fragility, ligamentous laxity, hypotonia, and cognitive impairment. It is transmitted as an autosomal recessive trait and is associated with several types of mutations in LRP5 [ 10 ].…”

“…Hypogonadism, growth hormone (GH) deficiency, hyperthy roidism or hypothyroidism, hyperparathyroidism, diabetes mellitus (DM), and Cushing syndrome are associated with low bone mass [ 8 , 10 , 11 ]. Hypogonadism is associated with decreases in cortical width, trabecular number, and osteoid and mineralization activity because of the decreased lifespan of osteoblasts and osteocytes but increased lifespan of osteoclasts, histomorphometrically [ 13 ] GH deficiency is associated with decreases in osteoblast differentiation and proliferation, osteoblast synthesis of insulin-like growth factor-I (IGF-I), insulin-like growth factor binding protein-3, osteocalcin, bone-specific alkaline phosphatase, procollagen type I, and osteoprotegerin [ 14 , 15 ].…”