| Citation: |
CHEN Miao, YANG Chen, LIU Ziwei, CAO Wei, ZHANG Bo, LIU Xin, LI Jingnan, LIU Wei, PAN Jie, WANG Jian, ZHENG Yuehong, CHEN Yuexin, LI Fangda, DU Shunda, NING Cong, CHEN Limeng, YUE Cai, NI Jun, PENG Min, GUO Xiaoxiao, WANG Tao, LI Hongjun, LI Rongrong, WU Tong, HAN Bing, ZHANG Shuyang, Multidiscipline Collaboration Group on Rare Disease at Peking Union Medical College Hospital. Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria(2024)[J]. Medical Journal of Peking Union Medical College Hospital, 2024, 15(5): 1011-1028. DOI: 10.12290/xhyxzz.2024-0416
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Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disease caused by abnormal expression of glycosylphosphatidylinositol (GPI) on the cell membrane due to mutations in the phosphatidylinositol glycan class A(PIGA) gene. It is commonly characterized by intravascular hemolysis, repeated thrombosis, and bone marrow failure, as well as multiple systemic involvement symptoms such as renal dysfunction, pulmonary hypertension, swallowing difficulties, chest pain, abdominal pain, and erectile dysfunction. Due to the rarity of PNH and its strong heterogeneity in clinical manifestations, multidisciplinary collaboration is often required for diagnosis and treatment. Peking Union Medical College Hospital, relying on the rare disease diagnosis and treatment platform, has invited multidisciplinary clinical experts to form a unified opinion on the diagnosis and treatment of PNH, and formulated the Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria (2024), with the hope of promoting the standardization of PNH diagnosis and treatment.
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