E-resources
Peer reviewed
Open access
-
Al-Ashwal, Abdullah; Al Zahrani, Asma; Dammas, Nada; Aletani, Lujain; Alhuthil, Raghad
Curēus, 12/2023, Volume: 15, Issue: 12Journal Article
Rickets is a childhood disorder of vitamin D deficiency that is characterized by growth retardation and impairment in skeletal mineralization. Vitamin D deficiency is usually due to decreased dietary vitamin D intake, decreased sunlight exposure, or genetic defects. A recurrent gain-of-function missense mutation (p.I301T) in the gene encoding has been identified as a cause of excessive inactivation of vitamin D metabolites that causes vitamin D-dependent rickets type 3 (VDDR3). We hereby report a case of a six-year-old girl with poor growth and bone deformities, such as genu valgum. In addition, the patient has a strong family history of short stature and bone deformities. She continues to receive multidisciplinary care, and the finding of a heterozygous missense variant in : c.902 T > C; p.Ile301Thr in the gene confirms the diagnosis of VDDR3. To our knowledge, this is the first case to be reported in Saudi Arabia and the fourth case in the literature. Our findings highlight the importance of vitamin D in those with high activity in to maintain vitamin D hemostasis, and we need to reach optimal doses to help them maintain their biochemical and radiological finding within the normal range.
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.