dc.date.accessioned |
2021-06-08T09:11:15Z |
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dc.date.available |
2021-06-08T09:11:15Z |
|
dc.date.issued |
2020 |
|
dc.identifier.issn |
0334-018X |
|
dc.identifier.uri |
https://hdl.handle.net/20.500.12619/95796 |
|
dc.description |
Bu yayının lisans anlaşması koşulları tam metin açık erişimine izin vermemektedir. |
|
dc.description.abstract |
Background: Hereditary vitamin D-resistant rickets (HVDRR) is caused by vitamin D receptor (VDR) defects. Patients with HVDRR do not respond to standard doses of calcitriol and oral calcium (Ca) treatment and need to be treated with intravenous Ca (IV-Ca) via a central route. However, central catheter-related complications can cause significant morbidity. Case presentation: Four unrelated patients with HVDRR presenting with rickets and alopecia totalis were administered intermittent IV-Ca treatment (2-5 times/week) through a peripheral route. No complications such as infection, extravasation or arrhythmias were detected upon peripheral infusion. Peripheral 1-22 months'-duration of IV-Ca normalized parathyroid hormone (PTH) and alkaline phosphatase (ALP) in all patients, after which, oral Ca of 200-400 mg/kg/day and calcitriol of 0.5 mu g/kg/day were sufficient to maintain normal PTH levels. Molecular studies on the VDR gene showed a previously reported homozygous c.454C > T (p.Q152*) pathogenic variant in two patients. Two novel homozygous variants in the other two patients were detected: (1) c.756-2A > G, which affects the splice acceptor site, and (2) c.66dupG (p.I23Dfs*20) variant leading to a frameshift that results in a premature stop codon. Conclusions: Peripheral IV-Ca treatment is an effective and practical alternative treatment mode that provides dramatic clinical benefit in patients with HVDRR. |
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dc.language |
English |
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dc.language.iso |
eng |
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dc.publisher |
WALTER DE GRUYTER GMBH |
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dc.relation.isversionof |
10.1515/jpem-2019-0466 |
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dc.rights |
info:eu-repo/semantics/closedAccess |
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dc.subject |
D-DEPENDENT RICKETS |
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dc.subject |
BINDING DOMAIN |
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dc.subject |
MUTATION |
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dc.subject |
HORMONE |
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dc.subject |
SERVER |
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dc.title |
Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route |
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dc.type |
Article |
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dc.contributor.authorID |
ABALI, SAYGIN/0000-0001-6552-2801 |
|
dc.contributor.authorID |
bereket, abdullah/0000-0002-6584-9043 |
|
dc.contributor.authorID |
Turan, Serap/0000-0002-5172-5402 |
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dc.identifier.volume |
33 |
|
dc.identifier.startpage |
557 |
|
dc.identifier.endpage |
562 |
|
dc.relation.journal |
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM |
|
dc.identifier.issue |
4 |
|
dc.identifier.doi |
10.1515/jpem-2019-0466 |
|
dc.identifier.eissn |
2191-0251 |
|
dc.contributor.author |
Abali, Saygin |
|
dc.contributor.author |
Tamura, Mayuko |
|
dc.contributor.author |
Turan, Serap |
|
dc.contributor.author |
Atay, Zeynep |
|
dc.contributor.author |
Isguven, Pinar |
|
dc.contributor.author |
Guran, Tulay |
|
dc.contributor.author |
Haliloglu, Belma |
|
dc.contributor.author |
Bas, Serpil |
|
dc.contributor.author |
Isojima, Tsuyoshi |
|
dc.contributor.author |
Kitanaka, Sachiko |
|
dc.contributor.author |
Bereket, Abdullah |
|
dc.relation.publicationcategory |
Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı |
|
dc.identifier.pmıd |
32049653 |
|