TY  - JOUR
A1  - Modica, Roberta
A1  - Altieri, Barbara
A1  - D’Aniello, Francesco
A1  - Benevento, Elio
A1  - Cannavale, Giuseppe
A1  - Minotta, Roberto
A1  - Liccardi, Alessia
A1  - Colao, Annamaria
A1  - Faggiano, Antongiulio
T1  - Vitamin D and bone metabolism in adult patients with neurofibromatosis type 1
JF  - Metabolites
N2  - 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.
KW  - neurofibromatosis type 1
KW  - vitamin D
KW  - bone metabolism
KW  - osteoporosis
KW  - tumor
Y1  - 2023
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-303957
SN  - 2218-1989
VL  - 13
IS  - 2
ER  -