Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1
Rattachement africain : nl, ee. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Pathogenic variants in the LRP5, PLS3, or WNT1 genes can significantly affect bone mineral density, causing monogenic osteoporosis. Much remains to be discovered about the phenotype and medical care needs of these patients. The purpose of this study was to examine the use of medical care among Dutch individuals identified between 2014 and 2021 with a pathogenic or suspicious rare variant in LRP5, PLS3, or WNT1. In addition, the aim was to compare their medical care utilization to both the overall Dutch population and the Dutch Osteogenesis Imperfecta (OI) population. The Amsterdam UMC Genome Database was used to match 92 patients with the Statistics Netherlands (CBS) cohort. Patients were categorized based on their harbored variants: LRP5, PLS3, or WNT1. Hospital admissions, outpatient visits, medication data, and diagnosis treatment combinations (DTCs) were compared between the variant groups and, when possible, to the total population and OI population. Compared to the total population, patients with an LRP5, PLS3, or WNT1 variant had 1.63 times more hospital admissions, 2.0 times more opened DTCs, and a greater proportion using medication. Compared to OI patients, they had 0.62 times fewer admissions. Dutch patients with an LRP5, PLS3, or WNT1 variant appear to require on average more medical care than the total population. As expected, they made higher use of care at the surgical and orthopedic departments. Additionally, they used more care at the audiological centers and the otorhinolaryngology (ENT) department, suggesting a higher risk of hearing-related problems.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1
- Date Crossref
- 06/06/2023
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
-
Amsterdam University Medical Centers pays non établi dans la noticeÉtablissement de santé
-
Amsterdam Movement Sciences pays non établi dans la noticeOrganisme public
-
Vrije Universiteit Amsterdam Department of Internal Medicine Section Endocrinology pays non établi dans la noticeUniversité ou école supérieure
-
University of Tartu Department of Traumatology and Orthopedics pays non établi dans la noticeUniversité ou école supérieure
-
Health & Safety in Sports pays non établi dans la noticeInstitution
-
University of Amsterdam pays non établi dans la noticeUniversité ou école supérieure
-
Amsterdam Neuroscience pays non établi dans la noticeStructure de recherche
-
Rare Bone Disease Center Amsterdam pays non établi dans la noticeInstitution
Amsterdam University Medical Centers, Amsterdam Movement Sciences et Department of Internal Medicine Section Endocrinology — Vrije Universiteit Amsterdam, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.