Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , |
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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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 |
_version_ |
1752122066460475392 |