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Vitamin D-dependent rickets

MedGen UID:
526251
Concept ID:
C0221468
Disease or Syndrome
Synonyms: Active rickets; VDDR; VDDR - vitamin D-dependent rickets; vitamin D-dependent rickets
SNOMED CT: Vitamin D-dependent rickets (68295002); Active rickets (190640006); VDDR - vitamin D-dependent rickets (68295002)
 
Monarch Initiative: MONDO:0024299

Professional guidelines

PubMed

Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Michałus I, Rusińska A
Clin Genet 2018 Jul;94(1):103-114. Epub 2018 Mar 25 doi: 10.1111/cge.13229. PMID: 29417983

Recent clinical studies

Etiology

Ito N, Hidaka N, Kato H
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101851. Epub 2023 Nov 30 doi: 10.1016/j.beem.2023.101851. PMID: 38087658
Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
Acar S, Demir K, Shi Y
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):88-105. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S008. PMID: 29280738Free PMC Article
Tonini G, Tatò L, Rigon F, Radetti G, De Sanctis C, De Sanctis V, Buzi F, Bozzola M, Bona G, Bernasconi S
Minerva Pediatr 2004 Feb;56(1):125-31. PMID: 15249924
Miller WL, Portale AA
Trends Endocrinol Metab 2000 Oct;11(8):315-9. doi: 10.1016/s1043-2760(00)00287-3. PMID: 10996526

Diagnosis

Ito N, Hidaka N, Kato H
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101851. Epub 2023 Nov 30 doi: 10.1016/j.beem.2023.101851. PMID: 38087658
Chinoy A, Padidela R
Indian J Pediatr 2023 Jun;90(6):574-581. Epub 2023 Apr 19 doi: 10.1007/s12098-023-04538-4. PMID: 37074534Free PMC Article
Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
Marik B, Bagga A, Sinha A, Khandelwal P, Hari P, Sharma A
Eur J Med Genet 2022 Aug;65(8):104540. Epub 2022 Jun 21 doi: 10.1016/j.ejmg.2022.104540. PMID: 35738466
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Sep;37(9):2013-2036. Epub 2021 Dec 15 doi: 10.1007/s00467-021-05328-w. PMID: 34910242Free PMC Article

Therapy

Sarathi V, Dhananjaya MS, Karlekar M, Lila AR
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101876. Epub 2024 Jan 30 doi: 10.1016/j.beem.2024.101876. PMID: 38365463
Chinoy A, Padidela R
Indian J Pediatr 2023 Jun;90(6):574-581. Epub 2023 Apr 19 doi: 10.1007/s12098-023-04538-4. PMID: 37074534Free PMC Article
Mantoanelli L, de Almeida CM, Coelho MCA, Coutinho M, Levine MA, Collett-Solberg PF, Bordallo AP
Calcif Tissue Int 2023 Apr;112(4):512-517. Epub 2023 Jan 19 doi: 10.1007/s00223-022-01051-2. PMID: 36656330Free PMC Article
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Takeda E, Yamamoto H, Taketani Y, Miyamoto K
Acta Paediatr Jpn 1997 Aug;39(4):508-13. doi: 10.1111/j.1442-200x.1997.tb03629.x. PMID: 9316302

Prognosis

Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Ozden A, Doneray H
J Pediatr Endocrinol Metab 2021 Jun 25;34(6):781-789. Epub 2021 Apr 7 doi: 10.1515/jpem-2020-0691. PMID: 33823104
Li Y, Yuan X, Chen R, Lin X, Shangguan H, Yang X, Zhang Y
Orphanet J Rare Dis 2020 Oct 1;15(1):273. doi: 10.1186/s13023-020-01558-7. PMID: 33004071Free PMC Article
Thacher TD, Levine MA
J Steroid Biochem Mol Biol 2017 Oct;173:333-336. Epub 2016 Jul 27 doi: 10.1016/j.jsbmb.2016.07.014. PMID: 27473561
Hochberg Z
Horm Res 2002;58(6):297-302. doi: 10.1159/000066442. PMID: 12446995

Clinical prediction guides

Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J, Molin A
J Clin Endocrinol Metab 2023 Mar 10;108(4):812-826. doi: 10.1210/clinem/dgac639. PMID: 36321535
Nishikawa M, Murose N, Mano H, Yasuda K, Isogai Y, Kittaka A, Takano M, Ikushiro S, Sakaki T
Sci Rep 2022 Jul 22;12(1):12517. doi: 10.1038/s41598-022-16819-7. PMID: 35869242Free PMC Article
Thacher TD, Levine MA
J Steroid Biochem Mol Biol 2017 Oct;173:333-336. Epub 2016 Jul 27 doi: 10.1016/j.jsbmb.2016.07.014. PMID: 27473561
Tahir S, Demirbilek H, Ozbek MN, Baran RT, Tanriverdi S, Hussain K
Horm Res Paediatr 2016;85(5):309-17. Epub 2016 Mar 17 doi: 10.1159/000444483. PMID: 26982175
Hewison M, Zehnder D, Bland R, Stewart PM
J Mol Endocrinol 2000 Oct;25(2):141-8. doi: 10.1677/jme.0.0250141. PMID: 11013342

Recent systematic reviews

Mantoanelli L, de Almeida CM, Coelho MCA, Coutinho M, Levine MA, Collett-Solberg PF, Bordallo AP
Calcif Tissue Int 2023 Apr;112(4):512-517. Epub 2023 Jan 19 doi: 10.1007/s00223-022-01051-2. PMID: 36656330Free PMC Article
Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Litaiem N, Chabchoub I, Bacha T, Slouma M, Zeglaoui F, Khachemoune A
Photodermatol Photoimmunol Photomed 2020 Sep;36(5):339-350. Epub 2020 Jul 24 doi: 10.1111/phpp.12590. PMID: 32645757

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