Rickets: The Skeletal Disorders of Impaired Calcium or Phosphate Availability
Rickets derives from the old English word “wrikken” meaning to twist or bend and refers to conditions of impaired mineralization of growing bones, ultimately resulting in their bowing and twisting. Rickets and osteomalacia refer to similar processes occur
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Erik A. Imel and Thomas O. Carpenter
Abstract
Rickets derives from the old English word “wrikken” meaning to twist or bend and refers to conditions of impaired mineralization of growing bones, ultimately resulting in their bowing and twisting. Rickets and osteomalacia refer to similar processes occurring in different compartments of bone. Rickets is evident histologically and radiographically as a disrupted and expanded growth plate (physis) of growing bone together with the accompanying osteomalacia (accumulation of excess osteoid matrix) of trabecular and cortical bone. Children with untreated rickets may develop severe curvature deformities of the lower extremities, primarily due to the load of weight-bearing. This chapter will describe the pathophysiology and clinical diagnostic and treatment approach to rickets from a variety of calciopenic and phosphopenic causes. Keywords
Rickets • Calcium • Phosphate • FGF23 • Vitamin D • Osteomalacia
E.A. Imel, M.D. (*) Departments of Internal Medicine and Pediatrics, Indiana University School of Medicine,541 North Clinical Drive, CL 459, Indianapolis, IN, USA Department of Endocrinology and Pediatric Endocrinology, Indiana University School of Medicine, 541 North Clinical Drive, CL 459, Indianapolis, IN, USA e-mail: [email protected] T.O. Carpenter, M.D. Department of Pediatrics and Department of Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT, USA e-mail: [email protected]
Rickets derives from the old English word “wrikken” meaning to twist or bend and refers to conditions of impaired mineralization of growing bones, ultimately resulting in their bowing and twisting. Rickets and osteomalacia refer to similar processes occurring in different compartments of bone. Rickets is evident histologically and radiographically as a disrupted and expanded growth plate (physis) of growing bone together with the accompanying osteomalacia (accumulation of excess osteoid matrix) of trabecular and cortical bone. Children with untreated rickets may develop severe curvature deformities of the lower extremities, primarily due to the load of
S. Radovick and M.H. MacGillivray (eds.), Pediatric Endocrinology: A Practical Clinical Guide, Second Edition, Contemporary Endocrinology, DOI 10.1007/978-1-60761-395-4_21, © Springer Science+Business Media New York 2013
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weight-bearing. Osteomalacia is specifically identified histologically by a lag in mineralization of the osteoid in cortical or trabecular bone tissue, independent of growth plate abnormalities. Osteomalacia is always present when children have rickets, but similar pathophysiologic mechanisms in adults are usually described as osteomalacia, rather than rickets, since epiphyses have fused, and the growth plate manifestations of rickets no longer can develop (although bowing may develop in mature long bones). The terms rickets and osteomalacia should be distinguished from osteopenia, a general term referring to the appearance of overall diminished bone density on radiographs. O
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