Déploiement et évaluation d’une offre de test de dépistage néonatal pour le rachitisme vitamino-dépendant de type 1A

Vitamin D-Dependent Rickets Type 1A (VDDR1A) is an autosomal recessive inherited disease caused by variants in the CYP27B1 gene, which is required for vitamin D activation. Although rare worldwide, the prevalence is 1 in 2916 births in the Saguenay-Lac-Saint-Jean (SLSJ), Haute-Côte-Nord (HCN) and Charlevoix regions. At birth, the affected children are normal in appearance as vitamin D metabolism depends on the placenta. Around the age of 6 to 18 months, children present with several clinical manifestations due to vitamin D deficiency such as developmental and growth delays, multiple fractures, hypotonia and tooth enamel hypoplasia. Treatment with calcitriol (Rocaltrol®) restores active vitamin D levels and resolves most of the clinical manifestations mentioned above. However, some consequences persist during adult life, particularly on oral health. Studies have suggested that early treatment and management could prevent all clinical manifestations in children with VDDR1A. Therefore, the present study focused on the search for the variant common in the SLSJ, HCN, and Charlevoix regions to develop a neonatal screening test and program. The test was developed and validated according to clinical standards and implemented in the SLSJ hospitals. This two-year project allowed to confirm the effectiveness of the test and to evaluate the acceptability of the screening program by health professionals and participants, which was very high. The early diagnosis of a child with VDDR1A allowed us to support the hypothesis that early management and treatment can prevent serious health consequences for the child.

Name thesis:degree_name

M. Sc.

Level thesis:degree_level

Maîtrise

Discipline thesis:degree_discipline

Biochimie

Grantor dc:publisher

Université de Sherbrooke

Year dc:date.issued

2022

Author dc:creator

• Fortin, Carol-Ann

Advisor dc:contributor.advisor

• Bouchard, Luigi

• VDDR1A
• Dépistage néonatal
• CYP27B1
• Vitamine D
• Calcitriol
• Saguenay-Lac-Saint-Jean
• Newborn screening
• Vitamin D

Language dc:language.iso

fr, en

Handle dc:identifier.uri

http://hdl.handle.net/11143/19488

OAI identifier oai:identifier

oai:usherbrooke.scholaris.ca:11143/19488