{"id":6568,"date":"2016-12-19T10:22:16","date_gmt":"2016-12-19T10:22:16","guid":{"rendered":"http:\/\/old.institutcataladelpeu.com\/?p=6568\/"},"modified":"2017-03-06T12:27:53","modified_gmt":"2017-03-06T12:27:53","slug":"la-neurofibromatosi-causes-clinica-i-tractament","status":"publish","type":"post","link":"https:\/\/old.institutcataladelpeu.com\/ca\/la-neurofibromatosi-causes-clinica-i-tractament\/","title":{"rendered":"La neurofibromatosi. Causes, cl\u00ednica i tractament."},"content":{"rendered":"

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Les neurofibromatosis s\u00f3n alteracions del sistema nervi\u00f3s que incideixen directament sobre el creixement i desenvolupament de les c\u00e8l\u00b7lules neurals.<\/span><\/p>\n

Aquestes alteracions provoquen el desenvolupament de tumors en els nervis aix\u00ed com deformitats \u00f2ssies i canvis en la pell. Aquests tumors no solen malignitzar encara que poden provocar seriosos problemes est\u00e8tics. Es transmeten gen\u00e8ticament de manera autos\u00f2mica dominant, arribant al 50% de probabilitats de transmetre la malaltia de pares a fills. Es classifiquen en tipus 1 o tipus 2 en funci\u00f3 del cromosoma alterat.<\/span><\/p>\n

La neurofibromatosi tipus 1 o malaltia de Recklinghausen \u00e9s una de les malalties gen\u00e8tiques m\u00e9s freq\u00fcents. Presenten un ampli quadre cl\u00ednic.<\/span><\/p>\n

Antigament, la neurofibromatosi tipus 1 era coneguda com a neurofibromatosi perif\u00e8rica ja que s\u00edmptomes com tumors i taques cut\u00e0nies estaven lligats al sistema nervi\u00f3s perif\u00e8ric. Actualment ja no es denomina aix\u00ed, ja que est\u00e0 demostrada l’exist\u00e8ncia de tumors en el sistema nervi\u00f3s central. Es caracteritza per l’aparici\u00f3 de taques tipus “caf\u00e8 amb llet”, displ\u00e0sies d’ossos llargs, cataractes, etc.<\/span><\/p>\n

La neurofibromatosi tipus 2 es caracteritza pel predomini de tumors en nervis cranials.<\/span><\/p>\n

La causa de la neurofibromatosi \u00e9s la mutaci\u00f3 en el tipus 1 del cromosoma 17 mentre que en el tipus 2, la mutaci\u00f3 \u00e9s del cromosoma 22.<\/span><\/p>\n

El 50% de les neurofibromatosis es produeixen per mutaci\u00f3 espont\u00e0nia.<\/span><\/p>\n

La neurofibromatosi tipus 1 es diagnostica quan es presenten dos o m\u00e9s s\u00edmptomes dels seg\u00fcents:<\/span><\/p>\n

    \n
  1. Pares o germans afectats de la neurofibromatosi tipus 1.<\/span><\/li>\n
  2. Pigues axil\u00b7lars i\/o inguinals.<\/li>\n
  3. Pres\u00e8ncia de dos o m\u00e9s neurofibromes.<\/li>\n
  4. Pres\u00e8ncia de sis o m\u00e9s taques “caf\u00e8 amb llet” superiors a 5 mil\u00b7l\u00edmetres de di\u00e0metre abans de la pubertat o majors de 15 mil\u00b7l\u00edmetres despr\u00e9s d’aquesta.<\/li>\n
  5. Gliomes en vies \u00f2ptiques.<\/li>\n
  6. Pres\u00e8ncia de lesi\u00f3 \u00f2ssia caracter\u00edstica.<\/li>\n
  7. Pres\u00e8ncia de dos o m\u00e9s n\u00f2duls de Lisch.<\/li>\n<\/ol>\n

    Igual que en la neurofibromatosi tipus 1, per a la neurofibromatosi tipus 2 han d’apreciar-se dos o m\u00e9s s\u00edmptomes:<\/span><\/p>\n

    – Tumor bilateral del vuit\u00e8 parell cranial.<\/span><\/p>\n

    – Pares, germans o fills amb neurofibromatosis tipus 2 i un tumor ac\u00fastic unilateral.<\/span><\/p>\n

    – Pares, germans o fills amb dos trastorns seg\u00fcents:<\/span><\/p>\n

    \u00a0\u00a0\u00a0 a) Glioma.<\/span><\/p>\n

    \u00a0\u00a0\u00a0 b) Neurofibromatosi o Schwannoma.<\/span><\/p>\n

    \u00a0\u00a0\u00a0 c) Cataracta preco\u00e7.<\/span><\/p>\n

    \u00a0\u00a0\u00a0 d) Meningioma.<\/span><\/p>\n

    Els ex\u00e0mens diagn\u00f2stics es basen en la revisi\u00f3 ocular, proves gen\u00e8tiques i resson\u00e0ncia magn\u00e8tica del cervell o de la zona afecta.<\/span><\/p>\n

    Les complicacions m\u00e9s freq\u00fcents de la neurofibromatosi tipus 1 s\u00f3n escoliosi, macrocef\u00e0lia, tumors vertebrals i cerebrals, restrenyiment, sordesa, hipertensi\u00f3, etc.<\/span><\/p>\n

    En la neurofibromatosi tipus 2, les complicacions incideixen en major nombre sobre la funcionalitat del nervi com per exemple la p\u00e8rdua de visi\u00f3, dolor cr\u00f2nic, par\u00e0lisi facial, sordesa, p\u00e8rdua de l’equilibri i de la sensibilitat.<\/span><\/p>\n

    El tractament \u00e9s pal\u00b7liatiu tractant la complicaci\u00f3 de diverses formes. En casos de compressi\u00f3 d’\u00f2rgans per tumors es recorre a la cirurgia i en casos de malignitzaci\u00f3 de tumors, a la quimioter\u00e0pia.<\/p>\n

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    \u00a0<\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"

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