M

 

Multipl endokrin neoplazi sendromu 2 (MEN2)

Kalıtsal - AD  TABLO

Üç fenotipi var; MEN2A, Ailesel medüller tiroid ca ve MEN2B

 

MEN 2A (Sipple sendromu):

Medüller tiroid ca

Feokromositoma (bilateral) ve hipertansiyom

Paratiroid adenomu/hiperplazisi (hiperpatatiroidizm)

Hirschsprung hastalığı

Deride liken amilod

Cushing sendromu

 

Ailesel medüller tiroid ca:

Feokromositoma ve paratiroid adenomu/hiperplazisi olmaksızın saptanan ailesel medüller tiroid ca

 

MEN 2B (Wagenmann-Froboese sendromu):

Multipl mukozal nöromalar (dudaklar, dil, damak, üst solunum yoları, göz kapakları, bağırsaklar)

Kaba yüz yapısı

Dudaklar kalın

Dudaklarda nöromalar

Dudaklarda nodüler görünüm (blueberry)

Dilde nöromalar

Çukur damak

Prognatizm

Kornea sinir liflerinde yumuşama

Megakolon

Kolon divertikülleri

Skolyoz

Kifoz

Marfanoid yapı

Hipotoni

Tiroid patolojisi (goitre, medüller tiroid ca)

Bilateral feokromositoma

Hipertansiyon atakları

Gangliyonöromalar

Megakolon

Kolon divertikülleri

Hipotoni

 

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