Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
Abstract Bone metabolism has been rarely investigated in children affected by Neurofibromatosis type 1 (NF1). Aim of the present study was to assess bone mineral metabolism in children and adults NF1 patients, to determine the relevant factors potentially involved in the development of reduced bone...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2022-03-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-022-07855-4 |
| _version_ | 1818317142895886336 |
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| author | Ursula Pia Ferrara Cristina Tortora Carmen Rosano Antonia Assunto Alessandro Rossi Stefano Pagano Mariateresa Falco Chiara Simeoli Rosario Ferrigno Alessandra D’Amico Dario Di Salvio Giuliana Cangemi Rosario Pivonello Pietro Strisciuglio Daniela Melis |
| author_facet | Ursula Pia Ferrara Cristina Tortora Carmen Rosano Antonia Assunto Alessandro Rossi Stefano Pagano Mariateresa Falco Chiara Simeoli Rosario Ferrigno Alessandra D’Amico Dario Di Salvio Giuliana Cangemi Rosario Pivonello Pietro Strisciuglio Daniela Melis |
| author_sort | Ursula Pia Ferrara |
| collection | DOAJ |
| description | Abstract Bone metabolism has been rarely investigated in children affected by Neurofibromatosis type 1 (NF1). Aim of the present study was to assess bone mineral metabolism in children and adults NF1 patients, to determine the relevant factors potentially involved in the development of reduced bone mineral density (BMD), and provide possible therapeutic intervention in NF1 patients. 114 NF1 patients and sex and age matched controls were enrolled into the study. Clinical and biochemical factors reflecting bone metabolism were evaluated. Factors potentially affecting BMD were also investigated including: physical activity, sun exposure, vitamin D intake. Whenever the presence of vitamin D deficiency was recorded, cholecalciferol supplementation was started and z-score data obtained at Dual-Energy X-ray Absorptiometry (DXA) during supplementation were compared with previous ones. NF1 patients showed lower Z-scores at Dual-Energy X-ray Absorptiometry DXA than controls. Physical activity was significantly reduced in NF1 patients than in controls. Sun exposure was significantly lower in NF1 compared to control subjects. At linear regression analysis vitamin D was the most predictive factor of reduced z-score at DXA (p = 0.0001). Cholecalciferol supplementation significantly increased BMD z-score (p < 0.001). We speculated that a combination of different factors, including reduced sun exposure, possibly associated with reduced serum vitamin D levels, and poor physical activity, concur to the impaired bone status in NF1 patients. We also demonstrated that treatment with vitamin D can be effective in improving z-score value in NF1 patients, including children. In conclusion, the findings of the current study are expected to have important implications for the follow-up and prevention of osteopenia/osteoporosis in this common genetic disease. |
| first_indexed | 2024-12-13T09:32:38Z |
| format | Article |
| id | doaj.art-76fc759798784ef096125f852a0de767 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-13T09:32:38Z |
| publishDate | 2022-03-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-76fc759798784ef096125f852a0de7672022-12-21T23:52:26ZengNature PortfolioScientific Reports2045-23222022-03-011211910.1038/s41598-022-07855-4Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activityUrsula Pia Ferrara0Cristina Tortora1Carmen Rosano2Antonia Assunto3Alessandro Rossi4Stefano Pagano5Mariateresa Falco6Chiara Simeoli7Rosario Ferrigno8Alessandra D’Amico9Dario Di Salvio10Giuliana Cangemi11Rosario Pivonello12Pietro Strisciuglio13Daniela Melis14Department of Translational Medical Science, Section of Pediatrics, Federico II UniversityDepartment of Molecular Medicine and Medical Biotechnology, Federico II UniversityDepartment of Translational Medical Science, Section of Pediatrics, Federico II UniversityDepartment of Translational Medical Science, Section of Pediatrics, Federico II UniversityDepartment of Translational Medical Science, Section of Pediatrics, Federico II UniversityDepartment of Translational Medical Science, Section of Pediatrics, Federico II UniversityPediatric Unit, San Giovanni di Dio e Ruggi D’Aragona University HospitalDepartment of Clinical Medicine and Surgery, Endocrinology Section, Federico II UniversityDepartment of Clinical Medicine and Surgery, Endocrinology Section, Federico II UniversityRadiology Department, “Federico II” UniversityDepartment of Translational Medical Science, Section of Pediatrics, Federico II UniversityClinical Pathology Laboratory, Istituto Giannina GasliniDepartment of Clinical Medicine and Surgery, Endocrinology Section, Federico II UniversityDepartment of Translational Medical Science, Section of Pediatrics, Federico II UniversityDepartment of Translational Medical Science, Section of Pediatrics, Federico II UniversityAbstract Bone metabolism has been rarely investigated in children affected by Neurofibromatosis type 1 (NF1). Aim of the present study was to assess bone mineral metabolism in children and adults NF1 patients, to determine the relevant factors potentially involved in the development of reduced bone mineral density (BMD), and provide possible therapeutic intervention in NF1 patients. 114 NF1 patients and sex and age matched controls were enrolled into the study. Clinical and biochemical factors reflecting bone metabolism were evaluated. Factors potentially affecting BMD were also investigated including: physical activity, sun exposure, vitamin D intake. Whenever the presence of vitamin D deficiency was recorded, cholecalciferol supplementation was started and z-score data obtained at Dual-Energy X-ray Absorptiometry (DXA) during supplementation were compared with previous ones. NF1 patients showed lower Z-scores at Dual-Energy X-ray Absorptiometry DXA than controls. Physical activity was significantly reduced in NF1 patients than in controls. Sun exposure was significantly lower in NF1 compared to control subjects. At linear regression analysis vitamin D was the most predictive factor of reduced z-score at DXA (p = 0.0001). Cholecalciferol supplementation significantly increased BMD z-score (p < 0.001). We speculated that a combination of different factors, including reduced sun exposure, possibly associated with reduced serum vitamin D levels, and poor physical activity, concur to the impaired bone status in NF1 patients. We also demonstrated that treatment with vitamin D can be effective in improving z-score value in NF1 patients, including children. In conclusion, the findings of the current study are expected to have important implications for the follow-up and prevention of osteopenia/osteoporosis in this common genetic disease.https://doi.org/10.1038/s41598-022-07855-4 |
| spellingShingle | Ursula Pia Ferrara Cristina Tortora Carmen Rosano Antonia Assunto Alessandro Rossi Stefano Pagano Mariateresa Falco Chiara Simeoli Rosario Ferrigno Alessandra D’Amico Dario Di Salvio Giuliana Cangemi Rosario Pivonello Pietro Strisciuglio Daniela Melis Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity Scientific Reports |
| title | Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity |
| title_full | Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity |
| title_fullStr | Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity |
| title_full_unstemmed | Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity |
| title_short | Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity |
| title_sort | bone metabolism in patients with type 1 neurofibromatosis key role of sun exposure and physical activity |
| url | https://doi.org/10.1038/s41598-022-07855-4 |
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