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Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1
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. Howeve...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9966600/ https://www.ncbi.nlm.nih.gov/pubmed/36837874 http://dx.doi.org/10.3390/metabo13020255 |
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author | Modica, Roberta Altieri, Barbara D’Aniello, Francesco Benevento, Elio Cannavale, Giuseppe Minotta, Roberto Liccardi, Alessia Colao, Annamaria Faggiano, Antongiulio |
author_facet | Modica, Roberta Altieri, Barbara D’Aniello, Francesco Benevento, Elio Cannavale, Giuseppe Minotta, Roberto Liccardi, Alessia Colao, Annamaria Faggiano, Antongiulio |
author_sort | Modica, Roberta |
collection | PubMed |
description | 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 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. |
format | Online Article Text |
id | pubmed-9966600 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-99666002023-02-26 Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1 Modica, Roberta Altieri, Barbara D’Aniello, Francesco Benevento, Elio Cannavale, Giuseppe Minotta, Roberto Liccardi, Alessia Colao, Annamaria Faggiano, Antongiulio Metabolites Article 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 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. MDPI 2023-02-09 /pmc/articles/PMC9966600/ /pubmed/36837874 http://dx.doi.org/10.3390/metabo13020255 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Modica, Roberta Altieri, Barbara D’Aniello, Francesco Benevento, Elio Cannavale, Giuseppe Minotta, Roberto Liccardi, Alessia Colao, Annamaria Faggiano, Antongiulio Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1 |
title | Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1 |
title_full | Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1 |
title_fullStr | Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1 |
title_full_unstemmed | Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1 |
title_short | Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1 |
title_sort | vitamin d and bone metabolism in adult patients with neurofibromatosis type 1 |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9966600/ https://www.ncbi.nlm.nih.gov/pubmed/36837874 http://dx.doi.org/10.3390/metabo13020255 |
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