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Aspetti endocrini della neurofibromatosi tipo 1

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Sommario

La neurofibromatosi tipo 1 (NF1) è una malattia multisistemica, clinicamente eterogenea, che può coinvolgere anche il sistema endocrino. Il feocromocitoma/paraganglioma associato alla NF1 ha frequenza maggiore rispetto alla popolazione generale e presenta un moderato rischio di malignità. Altre manifestazioni endocrinologiche sono la bassa statura, la pubertà precoce, alterazioni del metabolismo osseo, alterazioni tiroidee e metaboliche. L’endocrinologo dovrebbe pertanto essere parte integrante del team multidisciplinare preposto alla gestione clinica di questi pazienti.

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Bibliografia

  1. Friedman JM (1993–2018) Neurofibromatosis 1. In: Adam MP, Ardinger HH, Pagon RA et al (eds) SourceGeneReviews, University of Washington, Seattle

  2. Hegedus B, Yeh TH, Lee DY et al. (2008) Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis. Hum Mol Genet 17(19):2956–2966

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Sani I, Albanese A (2017) Endocrine long-term follow-up of children with neurofibromatosis type 1 and optic pathway glioma. Horm Res Paediatr 87(3):179–188

    Article  CAS  PubMed  Google Scholar 

  4. Gruber LM, Erickson D, Babovic-Vuksanovic D et al. (2017) Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1. Clin Endocrinol (Oxf) 86(1):141–149

    Article  CAS  Google Scholar 

  5. Gieldon L, Masjkur JR, Richter S et al. (2018) Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1. Eur J Endocrinol 178(2):K1–K9

    Article  CAS  PubMed  Google Scholar 

  6. Petramala L, Giustini S, Zinnamosca L et al. (2012) Bone mineral metabolism in patients with neurofibromatosis type 1 (von Recklingausen disease). Arch Dermatol Res 304(4):325–331

    Article  CAS  PubMed  Google Scholar 

  7. Schnabel C, Jett K, Friedman JM et al. (2013) Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: a retrospective clinical study. Jt Bone Spine 80(3):315–319

    Article  CAS  Google Scholar 

  8. Lammert M, Friedman JM, Roth HJ et al. (2006) Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1. J Med Genet 43(10):810–813

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Koga M, Yoshida Y, Imafuku S (2016) Nutritional, muscular and metabolic characteristics in patients with neurofibromatosis type 1. J Dermatol 43(7):799–803

    Article  CAS  PubMed  Google Scholar 

  10. Martins AS, Jansen AK, Rodrigues LO et al. (2018) Increased insulin sensitivity in individuals with neurofibromatosis type 1. Arch Endocrinol Metab 62(1):41–46

    Article  PubMed  Google Scholar 

  11. Nabi J (2013) Neurofibromatosis type 1 associated with Hashimoto’s thyroiditis: coincidence or possible link. Case Rep Neurol Med 2013:910656

    PubMed  PubMed Central  Google Scholar 

  12. Ercolino T, Lai R, Giachè V et al. (2014) Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes. Gene 536(2):332–335

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Barbara Altieri.

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Conflitto di interesse

Gli autori Barbara Altieri, Francesco D’Aniello, Annamaria Colao e Antongiulio Faggiano dichiarano di non aver conflitto di interesse.

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Lo studio presentato in questo articolo non ha richiesto sperimentazione umana.

Studi sugli animali

Gli autori di questo articolo non hanno eseguito studi sugli animali.

Additional information

Proposto da Antongiulio Faggiano.

Materiale elettronico supplementare

I link al materiale elettronico supplementare sono elencati qui sotto.

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Altieri, B., d’Aniello, F., Colao, A. et al. Aspetti endocrini della neurofibromatosi tipo 1. L'Endocrinologo 20, 261–265 (2019). https://doi.org/10.1007/s40619-019-00616-y

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