Nutritional rickets is a major public health problem in many countries of the world. The disease is characterized by deformities of the long bones, enlargement of the wrists and costochondral junctions, hypotonia and, in infants, craniotabes and delayed fontanelle closure. Predominantly caused by severe vitamin D deficiency, rickets can also be associated with hypocalcemic seizures and cardiac failure. First presentation is typically at 6-24 months of age, although hypocalcemia may be evident in younger infants. In many affluent industrialized countries, the prevalence of rickets in the general population diminished after the introduction of clean-air legislation and dietary supplementation. However, in such countries, vitamin-D deficiency rickets has re-emerged in recent years, particularly among groups with limited exposure to UVB-containing sunshine. Infants at risk of rickets tend to be those whose mothers had poor vitamin D status during pregnancy and those exclusively breast-fed for a prolonged period with little skin exposure to UVB. In other countries of the world, the prevalence of rickets can be high, even in regions with abundant year-round UVB-containing sunshine. In general, this is also due to vitamin D deficiency related to limited sun exposure. However, reports from Africa and Asia suggest that there may be other etiological factors involved. Studies in South Africa, Nigeria, The Gambia and Bangladesh have identified rickets in children, typically 3-5 years old at first presentation, in whom plasma 25-hydroxyvitamin D concentrations are higher than those characteristic of primary vitamin D deficiency. Calcium deficiency has been implicated, and in some, but not all, disturbances of phosphate metabolism, renal compromise and iron deficiency may also be involved. Continuing studies of the etiology of nutritional rickets will provide evidence to underpin guidelines for the prevention and treatment of rickets world-wide. This article is part of a Special Issue entitled 'Vitamin D Workshop'.
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