A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY
Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the cou...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
E A Pigarova [verfasserIn] Z N Abdulvapova [verfasserIn] A A Petrushkina [verfasserIn] L Ya Rozhinskaya [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch ; Russisch |
| Erschienen: |
2015 |
|---|
| Übergeordnetes Werk: |
In: Остеопороз и остеопатии - Endocrinology Research Centre, 2018, 18(2015), 3, Seite 36-39 |
|---|---|
| Übergeordnetes Werk: |
volume:18 ; year:2015 ; number:3 ; pages:36-39 |
| Links: |
Link aufrufen |
|---|
| DOI / URN: |
10.14341/osteo2015336-39 |
|---|
| Katalog-ID: |
DOAJ058385975 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | DOAJ058385975 | ||
| 003 | DE-627 | ||
| 005 | 20230502215714.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230228s2015 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.14341/osteo2015336-39 |2 doi | |
| 035 | |a (DE-627)DOAJ058385975 | ||
| 035 | |a (DE-599)DOAJ75c188dcadf54102b06b8b7fb0877d49 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng |a rus | ||
| 050 | 0 | |a RZ301-397.5 | |
| 100 | 0 | |a E A Pigarova |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY |
| 264 | 1 | |c 2015 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 520 | |a Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders. | ||
| 653 | 0 | |a Osteopathy | |
| 700 | 0 | |a Z N Abdulvapova |e verfasserin |4 aut | |
| 700 | 0 | |a A A Petrushkina |e verfasserin |4 aut | |
| 700 | 0 | |a L Ya Rozhinskaya |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i In |t Остеопороз и остеопатии |d Endocrinology Research Centre, 2018 |g 18(2015), 3, Seite 36-39 |w (DE-627)1760648779 |x 23110716 |7 nnns |
| 773 | 1 | 8 | |g volume:18 |g year:2015 |g number:3 |g pages:36-39 |
| 856 | 4 | 0 | |u https://doi.org/10.14341/osteo2015336-39 |z kostenfrei |
| 856 | 4 | 0 | |u https://doaj.org/article/75c188dcadf54102b06b8b7fb0877d49 |z kostenfrei |
| 856 | 4 | 0 | |u https://endojournals.ru/index.php/osteo/article/view/8922 |z kostenfrei |
| 856 | 4 | 2 | |u https://doaj.org/toc/2072-2680 |y Journal toc |z kostenfrei |
| 856 | 4 | 2 | |u https://doaj.org/toc/2311-0716 |y Journal toc |z kostenfrei |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a SYSFLAG_A | ||
| 912 | |a GBV_DOAJ | ||
| 912 | |a SSG-OLC-PHA | ||
| 951 | |a AR | ||
| 952 | |d 18 |j 2015 |e 3 |h 36-39 | ||
| author_variant |
e a p eap z n a zna a a p aap l y r lyr |
|---|---|
| matchkey_str |
article:23110716:2015----::csosvrfmlavtm |
| hierarchy_sort_str |
2015 |
| callnumber-subject-code |
RZ |
| publishDate |
2015 |
| allfields |
10.14341/osteo2015336-39 doi (DE-627)DOAJ058385975 (DE-599)DOAJ75c188dcadf54102b06b8b7fb0877d49 DE-627 ger DE-627 rakwb eng rus RZ301-397.5 E A Pigarova verfasserin aut A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders. Osteopathy Z N Abdulvapova verfasserin aut A A Petrushkina verfasserin aut L Ya Rozhinskaya verfasserin aut In Остеопороз и остеопатии Endocrinology Research Centre, 2018 18(2015), 3, Seite 36-39 (DE-627)1760648779 23110716 nnns volume:18 year:2015 number:3 pages:36-39 https://doi.org/10.14341/osteo2015336-39 kostenfrei https://doaj.org/article/75c188dcadf54102b06b8b7fb0877d49 kostenfrei https://endojournals.ru/index.php/osteo/article/view/8922 kostenfrei https://doaj.org/toc/2072-2680 Journal toc kostenfrei https://doaj.org/toc/2311-0716 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA AR 18 2015 3 36-39 |
| spelling |
10.14341/osteo2015336-39 doi (DE-627)DOAJ058385975 (DE-599)DOAJ75c188dcadf54102b06b8b7fb0877d49 DE-627 ger DE-627 rakwb eng rus RZ301-397.5 E A Pigarova verfasserin aut A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders. Osteopathy Z N Abdulvapova verfasserin aut A A Petrushkina verfasserin aut L Ya Rozhinskaya verfasserin aut In Остеопороз и остеопатии Endocrinology Research Centre, 2018 18(2015), 3, Seite 36-39 (DE-627)1760648779 23110716 nnns volume:18 year:2015 number:3 pages:36-39 https://doi.org/10.14341/osteo2015336-39 kostenfrei https://doaj.org/article/75c188dcadf54102b06b8b7fb0877d49 kostenfrei https://endojournals.ru/index.php/osteo/article/view/8922 kostenfrei https://doaj.org/toc/2072-2680 Journal toc kostenfrei https://doaj.org/toc/2311-0716 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA AR 18 2015 3 36-39 |
| allfields_unstemmed |
10.14341/osteo2015336-39 doi (DE-627)DOAJ058385975 (DE-599)DOAJ75c188dcadf54102b06b8b7fb0877d49 DE-627 ger DE-627 rakwb eng rus RZ301-397.5 E A Pigarova verfasserin aut A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders. Osteopathy Z N Abdulvapova verfasserin aut A A Petrushkina verfasserin aut L Ya Rozhinskaya verfasserin aut In Остеопороз и остеопатии Endocrinology Research Centre, 2018 18(2015), 3, Seite 36-39 (DE-627)1760648779 23110716 nnns volume:18 year:2015 number:3 pages:36-39 https://doi.org/10.14341/osteo2015336-39 kostenfrei https://doaj.org/article/75c188dcadf54102b06b8b7fb0877d49 kostenfrei https://endojournals.ru/index.php/osteo/article/view/8922 kostenfrei https://doaj.org/toc/2072-2680 Journal toc kostenfrei https://doaj.org/toc/2311-0716 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA AR 18 2015 3 36-39 |
| allfieldsGer |
10.14341/osteo2015336-39 doi (DE-627)DOAJ058385975 (DE-599)DOAJ75c188dcadf54102b06b8b7fb0877d49 DE-627 ger DE-627 rakwb eng rus RZ301-397.5 E A Pigarova verfasserin aut A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders. Osteopathy Z N Abdulvapova verfasserin aut A A Petrushkina verfasserin aut L Ya Rozhinskaya verfasserin aut In Остеопороз и остеопатии Endocrinology Research Centre, 2018 18(2015), 3, Seite 36-39 (DE-627)1760648779 23110716 nnns volume:18 year:2015 number:3 pages:36-39 https://doi.org/10.14341/osteo2015336-39 kostenfrei https://doaj.org/article/75c188dcadf54102b06b8b7fb0877d49 kostenfrei https://endojournals.ru/index.php/osteo/article/view/8922 kostenfrei https://doaj.org/toc/2072-2680 Journal toc kostenfrei https://doaj.org/toc/2311-0716 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA AR 18 2015 3 36-39 |
| allfieldsSound |
10.14341/osteo2015336-39 doi (DE-627)DOAJ058385975 (DE-599)DOAJ75c188dcadf54102b06b8b7fb0877d49 DE-627 ger DE-627 rakwb eng rus RZ301-397.5 E A Pigarova verfasserin aut A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders. Osteopathy Z N Abdulvapova verfasserin aut A A Petrushkina verfasserin aut L Ya Rozhinskaya verfasserin aut In Остеопороз и остеопатии Endocrinology Research Centre, 2018 18(2015), 3, Seite 36-39 (DE-627)1760648779 23110716 nnns volume:18 year:2015 number:3 pages:36-39 https://doi.org/10.14341/osteo2015336-39 kostenfrei https://doaj.org/article/75c188dcadf54102b06b8b7fb0877d49 kostenfrei https://endojournals.ru/index.php/osteo/article/view/8922 kostenfrei https://doaj.org/toc/2072-2680 Journal toc kostenfrei https://doaj.org/toc/2311-0716 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA AR 18 2015 3 36-39 |
| language |
English Russian |
| source |
In Остеопороз и остеопатии 18(2015), 3, Seite 36-39 volume:18 year:2015 number:3 pages:36-39 |
| sourceStr |
In Остеопороз и остеопатии 18(2015), 3, Seite 36-39 volume:18 year:2015 number:3 pages:36-39 |
| format_phy_str_mv |
Article |
| institution |
findex.gbv.de |
| topic_facet |
Osteopathy |
| isfreeaccess_bool |
true |
| container_title |
Остеопороз и остеопатии |
| authorswithroles_txt_mv |
E A Pigarova @@aut@@ Z N Abdulvapova @@aut@@ A A Petrushkina @@aut@@ L Ya Rozhinskaya @@aut@@ |
| publishDateDaySort_date |
2015-01-01T00:00:00Z |
| hierarchy_top_id |
1760648779 |
| id |
DOAJ058385975 |
| language_de |
englisch russisch |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ058385975</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230502215714.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230228s2015 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.14341/osteo2015336-39</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ058385975</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ75c188dcadf54102b06b8b7fb0877d49</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield><subfield code="a">rus</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RZ301-397.5</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">E A Pigarova</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="2"><subfield code="a">A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2015</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Osteopathy</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Z N Abdulvapova</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">A A Petrushkina</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">L Ya Rozhinskaya</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Остеопороз и остеопатии</subfield><subfield code="d">Endocrinology Research Centre, 2018</subfield><subfield code="g">18(2015), 3, Seite 36-39</subfield><subfield code="w">(DE-627)1760648779</subfield><subfield code="x">23110716</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:18</subfield><subfield code="g">year:2015</subfield><subfield code="g">number:3</subfield><subfield code="g">pages:36-39</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.14341/osteo2015336-39</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/75c188dcadf54102b06b8b7fb0877d49</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://endojournals.ru/index.php/osteo/article/view/8922</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2072-2680</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2311-0716</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">18</subfield><subfield code="j">2015</subfield><subfield code="e">3</subfield><subfield code="h">36-39</subfield></datafield></record></collection>
|
| callnumber-first |
R - Medicine |
| author |
E A Pigarova |
| spellingShingle |
E A Pigarova misc RZ301-397.5 misc Osteopathy A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY |
| authorStr |
E A Pigarova |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)1760648779 |
| format |
electronic Article |
| delete_txt_mv |
keep |
| author_role |
aut aut aut aut |
| collection |
DOAJ |
| remote_str |
true |
| callnumber-label |
RZ301-397 |
| illustrated |
Not Illustrated |
| issn |
23110716 |
| topic_title |
RZ301-397.5 A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY |
| topic |
misc RZ301-397.5 misc Osteopathy |
| topic_unstemmed |
misc RZ301-397.5 misc Osteopathy |
| topic_browse |
misc RZ301-397.5 misc Osteopathy |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
cr |
| hierarchy_parent_title |
Остеопороз и остеопатии |
| hierarchy_parent_id |
1760648779 |
| hierarchy_top_title |
Остеопороз и остеопатии |
| isfreeaccess_txt |
true |
| familylinks_str_mv |
(DE-627)1760648779 |
| title |
A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY |
| ctrlnum |
(DE-627)DOAJ058385975 (DE-599)DOAJ75c188dcadf54102b06b8b7fb0877d49 |
| title_full |
A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY |
| author_sort |
E A Pigarova |
| journal |
Остеопороз и остеопатии |
| journalStr |
Остеопороз и остеопатии |
| callnumber-first-code |
R |
| lang_code |
eng rus |
| isOA_bool |
true |
| recordtype |
marc |
| publishDateSort |
2015 |
| contenttype_str_mv |
txt |
| container_start_page |
36 |
| author_browse |
E A Pigarova Z N Abdulvapova A A Petrushkina L Ya Rozhinskaya |
| container_volume |
18 |
| class |
RZ301-397.5 |
| format_se |
Elektronische Aufsätze |
| author-letter |
E A Pigarova |
| doi_str_mv |
10.14341/osteo2015336-39 |
| author2-role |
verfasserin |
| title_sort |
case of severe familial vitamin d deficiency |
| callnumber |
RZ301-397.5 |
| title_auth |
A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY |
| abstract |
Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders. |
| abstractGer |
Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders. |
| abstract_unstemmed |
Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders. |
| collection_details |
GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA |
| container_issue |
3 |
| title_short |
A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY |
| url |
https://doi.org/10.14341/osteo2015336-39 https://doaj.org/article/75c188dcadf54102b06b8b7fb0877d49 https://endojournals.ru/index.php/osteo/article/view/8922 https://doaj.org/toc/2072-2680 https://doaj.org/toc/2311-0716 |
| remote_bool |
true |
| author2 |
Z N Abdulvapova A A Petrushkina L Ya Rozhinskaya |
| author2Str |
Z N Abdulvapova A A Petrushkina L Ya Rozhinskaya |
| ppnlink |
1760648779 |
| callnumber-subject |
RZ - Other Systems of Medicine |
| mediatype_str_mv |
c |
| isOA_txt |
true |
| hochschulschrift_bool |
false |
| doi_str |
10.14341/osteo2015336-39 |
| callnumber-a |
RZ301-397.5 |
| up_date |
2024-07-03T17:41:51.105Z |
| _version_ |
1803580616070922240 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ058385975</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230502215714.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230228s2015 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.14341/osteo2015336-39</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ058385975</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ75c188dcadf54102b06b8b7fb0877d49</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield><subfield code="a">rus</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RZ301-397.5</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">E A Pigarova</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="2"><subfield code="a">A CASE OF SEVERE FAMILIAL VITAMIN D DEFICIENCY</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2015</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Clinical symptoms of vitamin D deficiency may be quite misleading and masked as rare hereditary syndromes. We describe a family, sister and brother presented with the pain in lower extremities at the age of 14 and 16years accordingly, with severe vitamin D deficiency that was misdiagnosed in the course of the disease with pseudohypoparathyroidism and 1-alpha-hydroxylase deficiency. They benefited from treatment with alfacalcidol and ossein-hydroxyapatite complex supplement which were further discontinued due to socioeconomic factors. At presentation after 2 years without treatment extremely low 25(OH)D levels were revealed. The patients' family history was remarkable for the same clinical features in mother and her Indian ancestry. Thus we describe an uncommon manifestation of severe vitamin D deficiency in a familial setting which emphasizes the necessity of vitamin D testing in calcium or parathyroid disorders.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Osteopathy</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Z N Abdulvapova</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">A A Petrushkina</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">L Ya Rozhinskaya</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Остеопороз и остеопатии</subfield><subfield code="d">Endocrinology Research Centre, 2018</subfield><subfield code="g">18(2015), 3, Seite 36-39</subfield><subfield code="w">(DE-627)1760648779</subfield><subfield code="x">23110716</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:18</subfield><subfield code="g">year:2015</subfield><subfield code="g">number:3</subfield><subfield code="g">pages:36-39</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.14341/osteo2015336-39</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/75c188dcadf54102b06b8b7fb0877d49</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://endojournals.ru/index.php/osteo/article/view/8922</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2072-2680</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2311-0716</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">18</subfield><subfield code="j">2015</subfield><subfield code="e">3</subfield><subfield code="h">36-39</subfield></datafield></record></collection>
|
| score |
7.400773 |