Multidisciplinary clinical management of paroxysmal nocturnal hemoglobinuria.
Makaleler > Tam Makale · 2015
Yazarlar: Fahri ŞAHİN, Melda Comert Ozkan, Nihal Gokmen Mete, Mümtaz YILMAZ, Nevin ORUÇ, Alev GÜRGÜN, Latife Meral KAYIKÇIOĞLU, Ayşe GÜLER, Figen GÖKÇAY, Ferda Bilgir, Cengiz Ceylan, Oktay Bilgir, Ismail Hakan Sari, Güray SAYDAM
American journal of blood research, Uluslararası, 2015, cilt 5, ss 1-9
Özet
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired disease caused by clonal expansion of one or more hematopoietic stem cell (HSC) lines due to a somatic mutation of the phosphatidylinositol glycan anchor (PIG-A) gene located on Xp22.1. PNH incidence is 1.5-2 cases per million of the population per year. PNH can affect multiple systems in the body and requires multidisciplinary clinical management. Patients can manifest with severe pancytopenia, life-threatening thrombosis affecting the hepatic, abdominal, cerebral, and subdermal veins, and high requirements for blood transfusion due to haemolytic anemia. PNH can also be associated with bone marrow failure. Advances in diagnostic techniques and a targeted therapeutic approach for PNH have emerged in the last two decades. Eculizumab, a promising humanized monoclonal antibody against C5, is the first approved therapy for PNH.