Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis
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 sing...
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| Format: | Article |
| Language: | English |
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Wiley
2025-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/crie/2434759 |
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| _version_ | 1850150137408520192 |
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| author | Risa Goldberg Gunjan Umarji Serge Jabbour |
| author_facet | Risa Goldberg Gunjan Umarji Serge Jabbour |
| author_sort | Risa Goldberg |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-607169f0ea4c4a2893d46eb9440f502d |
| institution | OA Journals |
| issn | 2090-651X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-607169f0ea4c4a2893d46eb9440f502d2025-08-20T02:26:40ZengWileyCase Reports in Endocrinology2090-651X2025-01-01202510.1155/crie/2434759Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With PseudoarthrosisRisa Goldberg0Gunjan Umarji1Serge Jabbour2Department of Internal MedicineDivision of EndocrinologyDivision of EndocrinologyThis 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.http://dx.doi.org/10.1155/crie/2434759 |
| spellingShingle | Risa Goldberg Gunjan Umarji Serge Jabbour Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis Case Reports in Endocrinology |
| title | Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis |
| title_full | Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis |
| title_fullStr | Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis |
| title_full_unstemmed | Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis |
| title_short | Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis |
| title_sort | heterozygous hereditary vitamin d dependent rickets type 2a vddr2a in a patient presenting with pseudoarthrosis |
| url | http://dx.doi.org/10.1155/crie/2434759 |
| work_keys_str_mv | AT risagoldberg heterozygoushereditaryvitaminddependentricketstype2avddr2ainapatientpresentingwithpseudoarthrosis AT gunjanumarji heterozygoushereditaryvitaminddependentricketstype2avddr2ainapatientpresentingwithpseudoarthrosis AT sergejabbour heterozygoushereditaryvitaminddependentricketstype2avddr2ainapatientpresentingwithpseudoarthrosis |