Multidisciplinary clinical management of paroxysmal nocturnal hemoglobinuria.

نویسندگان

Fahri Sahin

Melda Comert Ozkan

Nihal Gokmen Mete

Mumtaz Yilmaz

Nevin Oruc

Alev Gurgun

Meral Kayikcioglu

Ayse Guler

Figen Gokcay

Ferda Bilgir

Cengiz Ceylan

Oktay Bilgir

Ismail Hakan Sari

Guray Saydam

چکیده

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.

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