Keating Shawn, Machchhar Riddhi, Jain Ujjwala, Naronowicz Gabriela, Lipschutz Jordan
Internal Medicine, Ocean University Medical Center, Brick, USA.
Cureus. 2024 Jul 5;16(7):e63917. doi: 10.7759/cureus.63917. eCollection 2024 Jul.
Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon genetic disorder that affects red blood cell production, causing symptoms like fatigue, abdominal pain, and shortness of breath. This condition can also result in dark urine and an increased risk of infections. Diagnosis of PNH involves genetic testing and flow cytometry, which can confirm the presence of the condition. Once a diagnosis is confirmed, personalized treatment plans should be developed to effectively manage the symptoms and improve the patient's quality of life. Treatment options for PNH may include bone marrow transplantation, blood transfusions, and the use of recombinant monoclonal antibody, eculizumab. Regular monitoring is also essential to identify and manage any complications that may arise due to this condition. With proper management and treatment, patients with PNH can lead a healthy and fulfilling life. In this case study, we present a young adult male with PNH who also suffers from renal failure, highlighting the importance of personalized care and ongoing monitoring for this complex condition.
阵发性夜间血红蛋白尿（PNH）是一种罕见的遗传性疾病，会影响红细胞生成，导致疲劳、腹痛和呼吸急促等症状。这种疾病还可能导致尿液颜色加深以及感染风险增加。PNH的诊断包括基因检测和流式细胞术，这可以确认疾病的存在。一旦确诊，就应制定个性化的治疗方案，以有效控制症状并提高患者的生活质量。PNH的治疗选择可能包括骨髓移植、输血以及使用重组单克隆抗体依库珠单抗。定期监测对于识别和处理因这种疾病可能出现的任何并发症也至关重要。通过适当的管理和治疗，PNH患者可以过上健康而充实的生活。在本病例研究中，我们介绍了一名患有PNH且同时患有肾衰竭的年轻成年男性，强调了针对这种复杂疾病进行个性化护理和持续监测的重要性。
