دورية أكاديمية
Bone scan findings of Paget’s disease of bone in patients with VCP Multisystem Proteinopathy 1
| العنوان: | Bone scan findings of Paget’s disease of bone in patients with VCP Multisystem Proteinopathy 1 |
|---|---|
| المؤلفون: | Rod Carlo Agram Columbres, Sarosh Din, Liliane Gibbs, Virginia Kimonis |
| المصدر: | Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024) |
| بيانات النشر: | Nature Portfolio, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Medicine LCC:Science |
| مصطلحات موضوعية: | Medicine, Science |
| الوصف: | Abstract Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of inclusion body myopathy (IBM), frontotemporal dementia (FTD), and Paget’s disease of bone (PDB). We performed bone scan imaging in twelve patients (6 females, 6 males) with confirmed VCP gene mutation six (50%) of which has myopathy alone, four (33%) with both PDB and myopathy, and two (15%) were presymptomatic carriers. We aim to characterize the PDB in diagnosed individuals, and potentially identify PDB in the myopathy and presymptomatic groups. Interestingly, two patients with previously undiagnosed PDB had positive diagnostic findings on the bone scan and subsequent radiograph imaging. Among the individuals with PDB, increased radiotracer uptake of the affected bones were of typical distribution as seen in conventional PDB and those reported in other MSP1 cohorts which are the thoracic spine and ribs (75%), pelvis (75%), shoulder (75%) and calvarium (15%). Overall, we show that technetium-99m bone scans done at regular intervals are a sensitive screening tool in patients with MSP1 associated VCP variants at risk for PDB. However, diagnostic confirmation should be coupled with clinical history, biochemical analysis, and skeletal radiographs to facilitate early treatment and prevention complications, acknowledging its limited specificity. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2045-2322 |
| Relation: | https://doaj.org/toc/2045-2322 |
| DOI: | 10.1038/s41598-024-54526-7 |
| URL الوصول: | https://doaj.org/article/76b7cb380a704aa98dd818df1c2bc78d |
| رقم الأكسشن: | edsdoj.76b7cb380a704aa98dd818df1c2bc78d |
| قاعدة البيانات: | Directory of Open Access Journals |
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