F

 

Fanconi anemisi

Kalıtsal - AR

Gelişme geriliği

Mikrosefali

Mikroftalmi

Progressif kemik iliği yetmezliği (lökopeni, trombositopeni, erişkinlerde güçlü aplastik anemi)

Dişeti kanamaları

6-8  yaşlarında deride zeytin rengi-kahverengimsi pigmentasyon (café-au-lait)

Yer yer hipopigmentasyon

Konjenital anomaliler (iskelet, ürogenital, göz, kulak, kalp)

Parmaklarda hipoplazi

Hipogonadizm

Kanser riski (akut myelositik lösemi, skuamöz epitel kökenli karsinomlar, karaciğer tümörleri)

Zeka geriliği

 

  • Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nature Reviews Genetics, 2: 446-457, 2001

  • Kutler DI, Singh B, Satagopan J, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood, 101:1249–1256, 2003

  • Taniguchi T, D'Andrea AD. Molecular pathogenesis of Fanconi anemia: recent progress. Blood, 107(11):4223-4233, 2006

  • Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica, 93:511–517, 2008

  • Auerbach AD. Fanconi anemia and its diagnosis. Mutation Research, 668(1-2):4-10, 2009

  • Green AM, Kupfer GM. Fanconi anemia. Hematology/Oncology Clinics of North America, 23(2):193-214, 2009

  • Raya A, Rodriguez-Piza I, Guenechea G, et al. Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells. Nature, 460: 53-59, 2009