Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Modica, Roberta, Altieri, Barbara, D’Aniello, Francesco, Benevento, Elio, Cannavale, Giuseppe, Minotta, Roberto, Liccardi, Alessia, Colao, Annamaria, Faggiano, Antongiulio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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
_version_ 1784897057338687488
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
work_keys_str_mv AT modicaroberta vitamindandbonemetabolisminadultpatientswithneurofibromatosistype1
AT altieribarbara vitamindandbonemetabolisminadultpatientswithneurofibromatosistype1
AT daniellofrancesco vitamindandbonemetabolisminadultpatientswithneurofibromatosistype1
AT beneventoelio vitamindandbonemetabolisminadultpatientswithneurofibromatosistype1
AT cannavalegiuseppe vitamindandbonemetabolisminadultpatientswithneurofibromatosistype1
AT minottaroberto vitamindandbonemetabolisminadultpatientswithneurofibromatosistype1
AT liccardialessia vitamindandbonemetabolisminadultpatientswithneurofibromatosistype1
AT colaoannamaria vitamindandbonemetabolisminadultpatientswithneurofibromatosistype1
AT faggianoantongiulio vitamindandbonemetabolisminadultpatientswithneurofibromatosistype1