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Zespół Proteusza Utwórz PDF Drukuj Wyślij znajomemu

Źródło: http://pl.wikipedia.org


Zespół Proteusza (ang. Proteus syndrome, PS) - niezwykle rzadka, genetycznie uwarunkowana choroba, objawiająca się asymetrycznym przerostem tkanki skórnej i zaburzeniem rozwoju kości.
Etiologia
Przyczyna zespołu nie jest jednoznacznie poznana. U dwojga pacjentów znaleziono mutację w genie supresorowym PTEN na chromosomie 10. Inna teoria głosi, że przyczyną zespołu jest mozaicyzm.
Objawy i przebieg
Choroba objawia się przerostem skóry, tkanki podskórnej, naczyń, kości i mięśni. Zaburzenie wzrostu tkanek jest asymetryczne, nierzadko dotyka wyraźniej jedną połowę ciała. Dzieci rodzą się pozornie zdrowe, a zmiany nasilają sie z wiekiem. Malformacje naczyń są szczególnie groźne, jako niosące ryzyko zakrzepicy żył głębokich i zatorowości płucnej; jest to główna przyczyna zgonu pacjentów.
Historia 
 
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Joseph Merrick, najbardziej znany pacjent z zespołem Proteusza, na ostatnim zdjęciu przed śmiercią.
Zespół został opisany po raz pierwszy jako odrębna jednostka chorobowa w 1979 roku , a nazwę, wywiedzioną od greckiego boga Proteusza, otrzymał kilka lat później. Najsłynniejszy pacjent cierpiący na tę chorobę żył jednak ponad 100 lat wcześniej; był to Joseph Merrick (1862-1890), na którego biografii oparty był scenariusz filmu Davida Lyncha z 1980 roku, Człowiek słoń. Przypadek Merricka opisał sir Frederick Treves w 1885 roku. Znanych jest około 200 opisów przypadków tego rzadkiego zespołu, uważa się jednak, że wiele rozpoznań jest błędnych; niedawno opracowano szczegółowe kryteria rozpoznawania choroby.

 

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