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Diagnosis and Management of Vitamin D Dependent Rickets.

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.

SUBMITTER: Levine MA

PROVIDER: S-EPMC7303887 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Diagnosis and Management of Vitamin D Dependent Rickets.

Levine Michael A MA

Frontiers in pediatrics 20200612

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 ...[more]

PMID: 32596195

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