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Go Back   HCfor - Brutalne Oblicze Świata > Hard Core Corner > Choroby, mutacje genetyczne, anomalie

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Old 29-08-2008, 09:03 PM
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Old 09-10-2008, 04:30 PM
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Nerwiakowłókniakowatości (neurofibromatozy, łac. neurofibromatoses) są grupą chorób genetycznych dziedziczonych autosomalnie dominująco cechujących się obecnością licznych, niezłośliwych nowotworów pochodzenia nerwowego.
Znane są przynajmniej dwa typy choroby różniące się objawami i defektem genetycznym za nie odpowiedzialnym.

Nerwiakowłókniakowatość typu 1 (NF-1, dawniej choroba von Recklinghausena) dotyczy 90% chorych. Charakteryzuje się triadą objawów: obecnością licznych nerwiakowłókniaków (guzków podskórnych zbudowanych z elementów nerwów obwodowych oraz fibroblastów), plamami na skórze o wyglądzie "kawy z mlekiem" (café-au-lait) oraz zmianami barwnikowymi siatkówki (guzki Lischa). Niekiedy nerwiakowłókniaki mogą być obecne w innych lokalizacjach, np. narządach wewnętrznych.

Nerwiakowłókniakowatość typu 2 (NF-2, dawniej nazywana obustronną neurofibromatozą nerwu słuchowego lub typu centralnego). Objawy: plamy kawowe, nerwiaki nerwów słuchowych, oponiaki.

Niezależnie od typu możliwe jest złośliwienie zmian guzowatych, a także obserwuje się zwiększone ryzyko wystąpienia innych guzów - glejaków, oponiaków lub guza chromochłonnego rdzenia nadnerczy.






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Old 26-03-2009, 04:11 AM
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Old 27-03-2009, 02:52 PM
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Old 20-04-2009, 02:33 PM
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Old 15-06-2009, 02:28 AM
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Old 15-06-2009, 02:39 AM
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Old 15-06-2009, 11:34 AM
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Old 29-05-2010, 11:57 PM
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Old 16-11-2011, 11:35 PM
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Chandra Wisnu lat 57, Indonezyjczyk.Cierpi na tę chorobę już od 40 lat.Pierwsze bąble ukazały się najpierw na jego twarzy,później zaczęły zajmować resztę ciała.Obecnie jest ich tysiące.
Przez lata ukrywał swą chorobę,wstydząc się ludzi,jednak ożenił się i ma 4 dzieci.
Teraz postanowił się ujawnić, ponieważ choroba zaatakowała dwójkę jego dzieci i liczy że poprzez media znajdzie się ktoś,kto będzie w stanie pomóc jemu i jego dzieciom (Martin-32l,Lisa-26l.).






























Z żoną.





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