Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
<h3>Background</h3><p dir="ltr">Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which hetero...
Saved in:
| Main Author: | |
|---|---|
| Other Authors: | , , , , , , |
| Published: |
2018
|
| Subjects: | |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1864513557860712448 |
|---|---|
| author | Muhammad Faiyaz-Ul-Haque (14585556) |
| author2 | Waheeb AlDhalaan (14585557) Abdullah AlAshwal (14585558) Bassam S. Bin-Abbas (14585560) Afaf Alsagheir (8987390) Maram AlOtaiby (564512) Zulqurnain Rafiq (14585562) Syed H.E. Zaidi (14585563) |
| author2_role | author author author author author author author |
| author_facet | Muhammad Faiyaz-Ul-Haque (14585556) Waheeb AlDhalaan (14585557) Abdullah AlAshwal (14585558) Bassam S. Bin-Abbas (14585560) Afaf Alsagheir (8987390) Maram AlOtaiby (564512) Zulqurnain Rafiq (14585562) Syed H.E. Zaidi (14585563) |
| author_role | author |
| dc.creator.none.fl_str_mv | Muhammad Faiyaz-Ul-Haque (14585556) Waheeb AlDhalaan (14585557) Abdullah AlAshwal (14585558) Bassam S. Bin-Abbas (14585560) Afaf Alsagheir (8987390) Maram AlOtaiby (564512) Zulqurnain Rafiq (14585562) Syed H.E. Zaidi (14585563) |
| dc.date.none.fl_str_mv | 2018-06-27T00:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1515/jpem-2017-0312 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Hereditary_1_25-dihydroxyvitamin_D-resistant_rickets_HVDRR_clinical_heterogeneity_and_long-term_efficacious_management_of_eight_patients_from_four_unrelated_Arab_families_with_a_loss_of_function_VDR_mutation/22046924 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biomedical and clinical sciences Clinical sciences Paediatrics alopecia growth retardation hereditary 1,25-dihydroxyvitamin D-resistant rickets treatment vitamin D receptor mutation |
| dc.title.none.fl_str_mv | Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Background</h3><p dir="ltr">Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes with the retinoid X receptor to regulate the expression of target genes. Inactivating mutations in the <i>VDR</i> gene cause hereditary vitamin D-resistant rickets (HVDRR), a rare disorder characterized by an early onset of rickets, growth retardation, skeletal deformities, hypocalcemia, hypophosphatemia and secondary hyperparathyroidism, and in some cases alopecia.</p><h3>Methods</h3><p dir="ltr">We describe eight new HVDRR patients from four unrelated consanguineous families. The <i>VDR</i> gene was sequenced to identify mutations. The management of patients over a period of up to 11 years following the initial diagnosis is assessed.</p><h3>Results</h3><p dir="ltr">Although all patients exhibit main features of HVDRR and carry the same c.885C>A (p.Y295*) loss of function mutation in the <i>VDR</i> gene, there was heterogeneity of the manifestations of HVDRR-associated phenotypes and developmental milestones. These eight patients were successfully treated over a period of 11 years. All clinical symptoms were improved except alopecia.</p><h3>Conclusions</h3><p dir="ltr">The study concludes that <i>VDR</i> sequencing and laboratory tests are essential to confirm HVDRR and to assess the effectiveness of the treatment.</p><h2>Other information</h2><p dir="ltr">Published in: Journal of Pediatric Endocrinology and Metabolism<br>License: <a href="http://creativecommons.org/licenses/by/4.0" target="_blank">http://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1515/jpem-2017-0312" target="_blank">http://dx.doi.org/10.1515/jpem-2017-0312</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_ed6c680c2c0b95281cf8fc7e454ca889 |
| identifier_str_mv | 10.1515/jpem-2017-0312 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/22046924 |
| publishDate | 2018 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutationMuhammad Faiyaz-Ul-Haque (14585556)Waheeb AlDhalaan (14585557)Abdullah AlAshwal (14585558)Bassam S. Bin-Abbas (14585560)Afaf Alsagheir (8987390)Maram AlOtaiby (564512)Zulqurnain Rafiq (14585562)Syed H.E. Zaidi (14585563)Biomedical and clinical sciencesClinical sciencesPaediatricsalopeciagrowth retardationhereditary 1,25-dihydroxyvitamin D-resistant ricketstreatmentvitamin D receptor mutation<h3>Background</h3><p dir="ltr">Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes with the retinoid X receptor to regulate the expression of target genes. Inactivating mutations in the <i>VDR</i> gene cause hereditary vitamin D-resistant rickets (HVDRR), a rare disorder characterized by an early onset of rickets, growth retardation, skeletal deformities, hypocalcemia, hypophosphatemia and secondary hyperparathyroidism, and in some cases alopecia.</p><h3>Methods</h3><p dir="ltr">We describe eight new HVDRR patients from four unrelated consanguineous families. The <i>VDR</i> gene was sequenced to identify mutations. The management of patients over a period of up to 11 years following the initial diagnosis is assessed.</p><h3>Results</h3><p dir="ltr">Although all patients exhibit main features of HVDRR and carry the same c.885C>A (p.Y295*) loss of function mutation in the <i>VDR</i> gene, there was heterogeneity of the manifestations of HVDRR-associated phenotypes and developmental milestones. These eight patients were successfully treated over a period of 11 years. All clinical symptoms were improved except alopecia.</p><h3>Conclusions</h3><p dir="ltr">The study concludes that <i>VDR</i> sequencing and laboratory tests are essential to confirm HVDRR and to assess the effectiveness of the treatment.</p><h2>Other information</h2><p dir="ltr">Published in: Journal of Pediatric Endocrinology and Metabolism<br>License: <a href="http://creativecommons.org/licenses/by/4.0" target="_blank">http://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1515/jpem-2017-0312" target="_blank">http://dx.doi.org/10.1515/jpem-2017-0312</a></p>2018-06-27T00:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1515/jpem-2017-0312https://figshare.com/articles/journal_contribution/Hereditary_1_25-dihydroxyvitamin_D-resistant_rickets_HVDRR_clinical_heterogeneity_and_long-term_efficacious_management_of_eight_patients_from_four_unrelated_Arab_families_with_a_loss_of_function_VDR_mutation/22046924CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/220469242018-06-27T00:00:00Z |
| spellingShingle | Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation Muhammad Faiyaz-Ul-Haque (14585556) Biomedical and clinical sciences Clinical sciences Paediatrics alopecia growth retardation hereditary 1,25-dihydroxyvitamin D-resistant rickets treatment vitamin D receptor mutation |
| status_str | publishedVersion |
| title | Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation |
| title_full | Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation |
| title_fullStr | Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation |
| title_full_unstemmed | Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation |
| title_short | Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation |
| title_sort | Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation |
| topic | Biomedical and clinical sciences Clinical sciences Paediatrics alopecia growth retardation hereditary 1,25-dihydroxyvitamin D-resistant rickets treatment vitamin D receptor mutation |