Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Detalhes bibliográficos
Autor(a) principal: Dhull,Rachita Singh
Data de Publicação: 2020
Outros Autores: Jain,Reena, Deepthi,Bobbity, Cheong,Hae II, Saha,Abhijeet, Mehndiratta,Mohit, Basu,Srikanta
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Jornal Brasileiro de Nefrologia
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494
Resumo: Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.
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spelling Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literatureFamilial Hypophosphatemic RicketsChildren25-Hydroxyvitamin D3 1-alpha-HydroxylaseMutagenesis, InsertionalAbstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.Sociedade Brasileira de Nefrologia2020-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494Brazilian Journal of Nephrology v.42 n.4 2020reponame:Jornal Brasileiro de Nefrologiainstname:Sociedade Brasileira de Nefrologia (SBN)instacron:SBN10.1590/2175-8239-jbn-2020-0001info:eu-repo/semantics/openAccessDhull,Rachita SinghJain,ReenaDeepthi,BobbityCheong,Hae IISaha,AbhijeetMehndiratta,MohitBasu,Srikantaeng2021-01-19T00:00:00Zoai:scielo:S0101-28002020000400494Revistahttp://www.bjn.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||jbn@sbn.org.br2175-82390101-2800opendoar:2021-01-19T00:00Jornal Brasileiro de Nefrologia - Sociedade Brasileira de Nefrologia (SBN)false
dc.title.none.fl_str_mv Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
title Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
spellingShingle Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
Dhull,Rachita Singh
Familial Hypophosphatemic Rickets
Children
25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Mutagenesis, Insertional
title_short Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
title_full Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
title_fullStr Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
title_full_unstemmed Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
title_sort Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
author Dhull,Rachita Singh
author_facet Dhull,Rachita Singh
Jain,Reena
Deepthi,Bobbity
Cheong,Hae II
Saha,Abhijeet
Mehndiratta,Mohit
Basu,Srikanta
author_role author
author2 Jain,Reena
Deepthi,Bobbity
Cheong,Hae II
Saha,Abhijeet
Mehndiratta,Mohit
Basu,Srikanta
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Dhull,Rachita Singh
Jain,Reena
Deepthi,Bobbity
Cheong,Hae II
Saha,Abhijeet
Mehndiratta,Mohit
Basu,Srikanta
dc.subject.por.fl_str_mv Familial Hypophosphatemic Rickets
Children
25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Mutagenesis, Insertional
topic Familial Hypophosphatemic Rickets
Children
25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Mutagenesis, Insertional
description Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.
publishDate 2020
dc.date.none.fl_str_mv 2020-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/2175-8239-jbn-2020-0001
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Nefrologia
publisher.none.fl_str_mv Sociedade Brasileira de Nefrologia
dc.source.none.fl_str_mv Brazilian Journal of Nephrology v.42 n.4 2020
reponame:Jornal Brasileiro de Nefrologia
instname:Sociedade Brasileira de Nefrologia (SBN)
instacron:SBN
instname_str Sociedade Brasileira de Nefrologia (SBN)
instacron_str SBN
institution SBN
reponame_str Jornal Brasileiro de Nefrologia
collection Jornal Brasileiro de Nefrologia
repository.name.fl_str_mv Jornal Brasileiro de Nefrologia - Sociedade Brasileira de Nefrologia (SBN)
repository.mail.fl_str_mv ||jbn@sbn.org.br
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