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Cureus ; 16(7): e63917, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39104998

RESUMEN

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.

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