Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis

Authors

Risa Goldberg, Thomas Jefferson UniversityFollow
Gunjan Umarji, Thomas Jefferson UniversityFollow
Serge Jabbour, Thomas Jefferson UniversityFollow

Document Type

Report

Publication Date

4-9-2025

Comments

This article is the author's final published version in Case Reports in Endocrinology, Volume 2025, Issue 1, 2025, Article number 2434759.

The published version is available at https://doi.org/10.1155/crie/2434759.

Copyright © 2025 Risa Goldberg et al.

Abstract

This case report is centered on an atypical presentation of Hereditary Vitamin D-dependent Rickets 2A (VDDR2A), a rare disorder caused by defects in the gene encoding the vitamin D receptor (VDR). While this disorder is primarily autosomal recessive in inheritance, this case demonstrates that a single heterozygous variant in the VDR gene could be linked to both phenotypic and laboratory manifestations of this condition. To understand the pathogenesis of this condition, one must know the typical roles of vitamin D, calcium, and parathyroid hormone (PTH) in maintaining homeostasis in the body. This case report focuses on the underlying pathogenesis of this disorder and demonstrates the variability in the ways this condition can present.

Recommended Citation

Goldberg, Risa; Umarji, Gunjan; and Jabbour, Serge, "Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis" (2025). Division of Endocrinology, Diabetes and Metabolic Diseases Faculty Papers. Paper 13.
https://jdc.jefferson.edu/endocrinologyfp/13

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 License.

PubMed ID

40241811

Language

English