Rayas Jose, Hassan Mariam, Hock Rivers A, Nguyen Bryan, Prakash Swathi, Rojas Murguia Adrian, Vahora Ilma, Corral Javier, Padilla Osvaldo, Dihowm Fatma
Internal Medicine, Texas Tech University Health Sciences Center Paul L. Foster School of Medicine, El Paso, USA.
Hematology and Oncology, Texas Tech University Health Sciences Center Paul L. Foster School of Medicine, El Paso, USA.
Cureus. 2023 Jan 23;15(1):e34093. doi: 10.7759/cureus.34093. eCollection 2023 Jan.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired X-linked, clonal hematopoietic stem cell disease. Patients with PNH may complain of vague symptomatology that contributes to the challenge of its diagnosis. This is especially true in the clinical context of a coinciding hematologic disorder. Aplastic anemia (AA) is an additional immune-mediated illness that results in the destruction of hematopoietic precursors and pancytopenia. The authors encourage screening for PNH clones in patients initially diagnosed with AA, treating underlying hematologic disease to prevent clonal expansion, and further research to investigate the effectiveness of eculizumab in an unusual "classical" PNH secondary to AA with hypercellular bone marrow.
阵发性睡眠性血红蛋白尿症(PNH)是一种获得性X连锁克隆性造血干细胞疾病。PNH患者可能会主诉一些模糊的症状,这给其诊断带来了挑战。在合并血液系统疾病的临床情况下尤其如此。再生障碍性贫血(AA)是另一种免疫介导的疾病,可导致造血前体细胞的破坏和全血细胞减少。作者鼓励对最初诊断为AA的患者进行PNH克隆筛查,治疗潜在的血液系统疾病以防止克隆性扩增,并进一步开展研究以调查依库珠单抗在继发于AA且骨髓细胞增多的不典型“经典”PNH中的有效性。