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Osteoporosis International

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01.01.2010 | Original Article

High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1

Erschienen in: Osteoporosis International | Ausgabe 1/2010

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Abstract

Summary

Although it is known that neurofibromatosis 1 (NF1) patients suffer from vitamin D deficiency and display decreased bone mineral density (BMD), a systematic clinical and histomorphometrical analysis is absent. Our data demonstrate that NF1 patients display high bone turnover and accumulation of osteoid and that supplementation of vitamin D has a beneficial effect on their BMD.

Introduction

Neurofibromatosis 1 results in a wide range of clinical manifestations, including decreased BMD. Although it has been reported that NF1 patients have decreased vitamin D serum levels, the manifestation of the disease at the bone tissue level has rarely been analyzed.

Methods

Thus, we performed a clinical evaluation of 14 NF1 patients in comparison to age- and sex-matched control individuals. The analysis included dual X-ray absorptiometry osteodensitometry, laboratory parameters, histomorphometric and quantitative backscattered electron imaging (qBEI) analyses of undecalcified bone biopsies.

Results

NF1 patients display significantly lower 25-(OH)-cholecalciferol serum levels and decreased BMD compared to control individuals. Histomorphometric analysis did not only reveal a reduced trabecular bone volume in biopsies from NF1 patients, but also a significantly increased osteoid volume and increased numbers of osteoblasts and osteoclasts. Moreover, qBEI analysis revealed a significant decrease of the calcium content in biopsies from NF1 patients. To address the question whether a normalization of calcium homeostasis improves BMD in NF1 patients, we treated four patients with cholecalciferol for 1 year, which resulted in a significant increase of BMD.

Conclusion

Taken together, our data provide the first complete histomorphometric analysis from NF1 patients. Moreover, they suggest that low vitamin D levels significantly contribute to the skeletal defects associated with the disease.

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Titel: High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1
Publikationsdatum: 01.01.2010
Erschienen in: Osteoporosis International / Ausgabe 1/2010
Print ISSN: 0937-941X
Elektronische ISSN: 1433-2965
DOI: https://doi.org/10.1007/s00198-009-0933-y

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Springer Medizin

High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1

Abstract

Summary

Introduction

Methods

Results

Conclusion

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Springer Medizin

Abstract

Summary

Introduction

Methods

Results

Conclusion

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