Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
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 mutatio...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Nefrologia
2020-09-01
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| Series: | Brazilian Journal of Nephrology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494&tlng=pt |
| _version_ | 1798025476253417472 |
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| author | Rachita Singh Dhull Reena Jain Bobbity Deepthi Hae II Cheong Abhijeet Saha Mohit Mehndiratta Srikanta Basu |
| author_facet | Rachita Singh Dhull Reena Jain Bobbity Deepthi Hae II Cheong Abhijeet Saha Mohit Mehndiratta Srikanta Basu |
| author_sort | Rachita Singh Dhull |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-11T18:20:37Z |
| format | Article |
| id | doaj.art-1adc7c8ba3444b39873c7fa789db17c3 |
| institution | Directory Open Access Journal |
| issn | 2175-8239 |
| language | English |
| last_indexed | 2024-04-11T18:20:37Z |
| publishDate | 2020-09-01 |
| publisher | Sociedade Brasileira de Nefrologia |
| record_format | Article |
| series | Brazilian Journal of Nephrology |
| spelling | doaj.art-1adc7c8ba3444b39873c7fa789db17c32022-12-22T04:09:47ZengSociedade Brasileira de NefrologiaBrazilian Journal of Nephrology2175-82392020-09-0142449449710.1590/2175-8239-jbn-2020-0001Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literatureRachita Singh DhullReena JainBobbity DeepthiHae II CheongAbhijeet Sahahttps://orcid.org/0000-0002-0251-2822Mohit MehndirattaSrikanta BasuAbstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494&tlng=ptFamilial Hypophosphatemic RicketsChildren25-Hydroxyvitamin D3 1-alpha-HydroxylaseMutagenesis, Insertional |
| spellingShingle | Rachita Singh Dhull Reena Jain Bobbity Deepthi Hae II Cheong Abhijeet Saha Mohit Mehndiratta Srikanta Basu Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature Brazilian Journal of Nephrology Familial Hypophosphatemic Rickets Children 25-Hydroxyvitamin D3 1-alpha-Hydroxylase Mutagenesis, Insertional |
| title | 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_short | 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 |
| topic | Familial Hypophosphatemic Rickets Children 25-Hydroxyvitamin D3 1-alpha-Hydroxylase Mutagenesis, Insertional |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494&tlng=pt |
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