Multidisciplinary clinical management of paroxysmal nocturnal hemoglobinuria

American Journal of Blood Research

Ayse Guler¹  Figen Gokcay¹  Nihal Gokmen Mete¹  Cengiz Ceylan¹  Melda Comert Ozkan¹  Ismail Hakan Sari¹  Ferda Bilgir¹  Alev Gurgun¹  Oktay Bilgir¹  Fahri Sahin¹  Nevin Oruc¹  Mumtaz Yilmaz¹  Meral Kayikcioglu¹  Guray Saydam¹ 

关键词: Paroxysmal nocturnal hemoglobinuria;    diagnosis;    treatment;    eculizumab;   

DOI  :  

学科分类：血液学

来源: e-Century Publishing Corporation

【 摘 要 】

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.

【 授权许可】

Unknown