Abstract
The term “vitamin D dependent rickets” describes a group of genetic disorders that are characterized by early-onset rickets due to the inability to maintain adequate concentrations of active forms of vitamin D or a failure to respond fully to activated vitamin D. Although the term is now admittedly a pathophysiological misnomer, there remains clinical relevance for its continued use, as patients have a lifelong “dependency” on administration of specialized regimens of vitamin D replacement. This review provides an update on the molecular bases for the three forms of vitamin D dependent rickets, and summarizes current protocols for management of affected subjects.
Highlights
Diagnosis and Management of Vitamin D Dependent RicketsThe term “vitamin D dependent rickets” describes a group of genetic disorders that are characterized by early-onset rickets due to the inability to maintain adequate concentrations of active forms of vitamin D or a failure to respond fully to activated vitamin D
The recognition that genetic defects in vitamin D activation or responsiveness could cause rickets evolved from detailed clinical and biochemical studies that identified the critical role that vitamin D played in ensuring normal bone and mineral metabolism
Rickets has been considered a manifestation of poor socioeconomic status and a diet that failed to provide adequate amounts of vitamin D and/or calcium [1, 2]
Summary
The term “vitamin D dependent rickets” describes a group of genetic disorders that are characterized by early-onset rickets due to the inability to maintain adequate concentrations of active forms of vitamin D or a failure to respond fully to activated vitamin D. The term is admittedly a pathophysiological misnomer, there remains clinical relevance for its continued use, as patients have a lifelong “dependency” on administration of specialized regimens of vitamin D replacement. This review provides an update on the molecular bases for the three forms of vitamin D dependent rickets, and summarizes current protocols for management of affected subjects. Edited by: Madhusmita Misra, Harvard Medical School, Massachusetts General Hospital, United States. Reviewed by: Anju Seth, University of Delhi, India Alan David Rogol, University of Virginia, United States.
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