Vitamin D and bone metabolism in adult patients with neurofibromatosis type 1
Please always quote using this URN: urn:nbn:de:bvb:20-opus-303957
- Neurofibromatosis type 1 (NF1) is a genetic multisystemic autosomal dominant disorder determining reduced life expectancy due to higher risk of developing benign and malignant tumors. Low levels of vitamin D and reduced bone mineral density (BMD) have been reported in young patients with NF1. However, correlation between vitamin D and NF1 phenotype needs to be elucidated. Aim of this study was to assess vitamin D levels and bone metabolism in NF1 patients, analyzing potential correlations with clinical phenotype. A cross-sectional study wasNeurofibromatosis type 1 (NF1) is a genetic multisystemic autosomal dominant disorder determining reduced life expectancy due to higher risk of developing benign and malignant tumors. Low levels of vitamin D and reduced bone mineral density (BMD) have been reported in young patients with NF1. However, correlation between vitamin D and NF1 phenotype needs to be elucidated. Aim of this study was to assess vitamin D levels and bone metabolism in NF1 patients, analyzing potential correlations with clinical phenotype. A cross-sectional study was carried out in a monocentric series of NF1 patients, evaluating genotype, clinical phenotype, BMD, biochemical evaluation with focus on serum 25OH-vitamin D, parathyroid hormone (PTH), calcium and phosphate levels. Correlations between clinical manifestations, neurofibromas, and vitamin D status have been studied in comparison with healthy controls. 31 NF1 adult patients were matched for sex, age and body mass index with 31 healthy controls. A significantly difference in vitamin D level emerged in NF1 patients compared to controls. Interestingly low vitamin D levels correlated with a more aggressive phenotype and with a bigger size of neurofibromas. These data underline that vitamin D deficiency/insufficiency may play a role in clinical severity of neurofibromas in patients with NF1, suggesting the need to check bone status and replace vitamin D in these patients.…
Author: | Roberta Modica, Barbara Altieri, Francesco D’Aniello, Elio Benevento, Giuseppe Cannavale, Roberto Minotta, Alessia Liccardi, Annamaria Colao, Antongiulio Faggiano |
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URN: | urn:nbn:de:bvb:20-opus-303957 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Medizinische Klinik und Poliklinik I |
Language: | English |
Parent Title (English): | Metabolites |
ISSN: | 2218-1989 |
Year of Completion: | 2023 |
Volume: | 13 |
Issue: | 2 |
Article Number: | 255 |
Source: | Metabolites (2023) 13:2, 255. https://doi.org/10.3390/metabo13020255 |
DOI: | https://doi.org/10.3390/metabo13020255 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Tag: | bone metabolism; neurofibromatosis type 1; osteoporosis; tumor; vitamin D |
Release Date: | 2024/03/04 |
Date of first Publication: | 2023/02/09 |
Licence (German): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |