VIII.118 - Rickets and Osteomalacia

Summary

Rickets and osteomalacia are diseases with multiple etiologies primarily related to abnormal metabolism of vitamin D and secondarily to calcium and phosphate metabolism. Of the many causes, by far the most important relate to dietary vitamin D deficiency and the activation of vitamin D precursors by the kidney and sunlight. Rickets and osteomalacia are characterized pathophysiologically by a failure of normal mineralization of bone and epiphyseal cartilage and clinically by skeletal deformity. Rickets occurs in growing infants and children, and both bone and epiphyseal cartilage are affected. Osteomalacia occurs in adults after closure of the epiphyses, and its manifestations are often much less prominent.

History

Historically, rickets was among the earliest diseases to be described. As early as 300 B.C., Lu-pu-wei described crooked legs and hunchback; however, these can occur with other disorders. More specifc references are found in the separate writings of three Chinese physicians of the seventh and eighth centuries A.D., including enlarged head, body wasting, pigeon breast, and delayed walking. By the tenth century, Chien-i, the Father of Chinese pediatrics, described many cases of rickets (Lee 1940).

In the second century A.D., Soranus of Ephesus mentioned characteristic deformities of the legs and spine in young children and remarked on the higher frequency in urban Rome compared to Greece. Slightly later, Galen’s work included a description of skeletal deformities in infants and young children, particularly the knock-knee, bow leg, and funnel-shaped chest, and pigeon breast seen in rickets. Sporadic and somewhat ambiguous references to the disease were made until the mid-seventeenth century, when the classic descriptions of Daniel Whistler and Francis Glisson appeared.