Search Results

You are looking at 1 - 1 of 1 items for

  • Author: Abdullah Alashwal x
Clear All Modify Search
Sarah Bakhamis Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Sarah Bakhamis in
Google Scholar
PubMed
Close
,
Faiqa Imtiaz Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Faiqa Imtiaz in
Google Scholar
PubMed
Close
,
Khushnooda Ramzan Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Khushnooda Ramzan in
Google Scholar
PubMed
Close
,
Edward De Vol Department of Biostatistics, Epidemiology & Scientific Computing, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Edward De Vol in
Google Scholar
PubMed
Close
,
Osamah Al-Sagheir Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Osamah Al-Sagheir in
Google Scholar
PubMed
Close
,
Abdulrahman Al-Rajhi Department of Orthopedics, King Saud University Medical City, Riyadh, Saudi Arabia

Search for other papers by Abdulrahman Al-Rajhi in
Google Scholar
PubMed
Close
,
Abdullah Alashwal Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Abdullah Alashwal in
Google Scholar
PubMed
Close
,
Bassam Bin Abbas Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Bassam Bin Abbas in
Google Scholar
PubMed
Close
,
Nadia Sakati Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Nadia Sakati in
Google Scholar
PubMed
Close
, and
Afaf Al-Sagheir Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Afaf Al-Sagheir in
Google Scholar
PubMed
Close

Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Recently, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited forms of vitamin D deficiency. We conducted a prospective cohort study at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, to review cases with 25-hydroxylase deficiency and describe their clinical, biochemical, and molecular genetic features. We analyzed 27 patients from nine different families who presented with low 25-OH vitamin D and not responding to usual treatment. Genetic testing identified two mutations: c.367+1G>A (12/27 patients) and c.768dupT (15/27 patients), where 18 patients were homozygous for their identified mutation and 9 patients were heterozygous. Both groups had similar clinical manifestations ranging in severity, but none of the patients with the heterozygous mutation had hypocalcemic manifestations. Thirteen out of 18 homozygous patients and all the heterozygous patients responded to high doses of vitamin D treatment, but they regressed after decreasing the dose, requiring lifelong therapy. Five out of 18 homozygous patients required calcitriol to improve their biochemical data, whereas none of the heterozygous patients and patients who carried the c.367+1G>A mutation required calcitriol treatment. To date, this is the largest cohort series analyzing CYP2R1-related 25-hydroxylase deficiency worldwide, supporting its major role in 25-hydroxylation of vitamin D. It is suggested that a higher percentage of CYP2R1 mutations might be found in the Saudi population. We believe that our study will help in the diagnosis, treatment, and prevention of similar cases in the future.

Open access