ABSTRACT
ABSTRACT The paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disease, with thrombotic episodes and frequent pancytopenia. We report the case of a 32 year-old female PNH patient with bone marrow aplasia, which followed a complex course, diagnosed with aplastic anemia associated with PNH, evolving in three years with Budd-Chiari syndrome and liver transplantation. Post-transplant complications, hepatic arterial thrombosis, graft rejection, liver retransplantation and treatment of PNH with eculizumab. Clinical stabilization and cessation of symptoms were achieved.
RESUMO Hemoglobinúria paroxística noturna (HPN) é uma doença rara, adquirida, com episódios trombóticos e pancitopenia frequente. Relatamos o caso de uma paciente jovem, 32 anos, sexo feminino, portadora de HPN e aplasia de medula, com evolução complexa e diagnóstico de anemia aplástica associada à HPN, evoluindo em três anos com síndrome de Budd-Chiari e transplante hepático. Complicação pós-transplante, trombose arterial hepática, rejeição do enxerto, retransplante hepático e tratamento da HPN com eculizumab. Obtiveram-se estabilização clínica e cessação dos sintomas.
ABSTRACT
La hemoglobinuria paroxística nocturna, también conocida como síndrome de Marchiafava-Micheli, es una enfermedad clonal y adquirida, causada por una mutación somática en el gen PIG-A que se encuentra en el cromosoma X y codifica una proteína involucrada en la síntesis del glicosilfosfatidilinositol, el cual le sirve como anclaje a muchas proteínas de la membrana celular; es la única anemia hemolítica adquirida por defecto de la membrana del eritrocito. Se caracteriza por una anemia hemolítica crónica intravascular, hemoglobinuria, hipercoagulabilidad, citopenia debido al fallo de la médula ósea, trombosis y raramente transformación leucémica. Al tener un paciente con estas características se decidió presentarlo.
The nocturnal paroxysmal hemoglobinuria, also known as Marchiafava-Micheli syndrome, is a clonal and acquired disease, caused by a somatic mutation of the PIG-A gene located in the X chromosome and modified a protein involved in the glicosilfosfatidilinositol synthesis that serves as anchorage for many proteins of the cell membrane; it is the only hemolytic anemia acquired by defect of the erythrocyte membrane. It is characterized by a chronic intravascular hemolytic anemia, hemoglobinuria, hyper coagulation, cytopenia due to the marrow failure, thrombosis and rarely leukemic transformation. Having a patient with these characteristics we decided to present the case.
ABSTRACT
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disorder of the hematopoietic stem cells characterized by chronic intravascular hemolysis, venous thrombosis, deficient hematopoiesis. Kidney involvement is usually benign and secondary to chronic deposition of hemosiderin. However, acute kidney injury may rarely occur in association with a hemolytic crisis or thrombotic complication. Hemolytic crisis is precipitated by nonspecific factors, such as infection, surgery and transfusion. A 35-year-old woman, who developed hemolytic crisis and acute kidney injury was admitted to our hospital presenting with acute gastroenteritis. After being treated by hemodialysis and oral low dose steroid, she was discharged with recovered renal function. Renal biopsy demonstrated acute tubular necrosis with considerable hemosiderin deposition without evidence of vascular thrombosis. A review of Korean cases showed that most of the cases featured severe renal dysfunction to such an extent to require a hemodialysis although there were no definite etiologies other than the deposition of blood iron due to massive hemolysis unlike the foreign cases. It also showed that the disease duration was longer. It can therefore be inferred that the early diagnosis and active treatment will be mandatory for the treatment of Korean patients with PNH. We reported a case of PNH with acute kidney injury and hemolytic crisis and documented by renal biopsy with review of Korean literature.