PubMed · 9551421
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M Noris, G Remuzzi. 1998. Are HUS and TTP genetically determined?. https://doi.org/10.1111/j.1523-1755.1998.00860.x
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Thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS) is a clinical syndrome defined by the presence of thrombocytopenia and microangiopathic hemolytic anemia without a clinically apparent etiology. Patients may also have multiple other symptoms and signs including neurologic and renal abnormalities and fever. In the era prior to effective therapy with plasma exchange, most patients developed multisystem abnormalities and the syndrome was more easily recognized. Now, since there is urgency to begin treatment, sufficient diagnostic criteria for TTP-HUS are only thrombocytopenia and microangiopathic hemolytic anemia without a clinically apparent cause; patients may have no neurologic symptoms, renal abnormalities, or fever. This has lead to an apparent increased incidence because of both the increased importance of early recognition and the decreased specificity of the diagnostic criteria. Effective treatment has also revealed new aspects of the clinical course of TTP-HUS following the initial response to plasma exchange treatment: prompt exacerbations, which are common when plasma exchange is diminished in frequency or discontinued, and later relapses, which may occur many years after the initial episode. This review describes the evolution of the syndrome of TTP-HUS in the current era of effective treatment, and describes the management and clinical outcomes among patients treated by the Oklahoma Blood Institute.
A 33-day-old male infant was admitted to the neonatal intensive care nursery because of respiratory distress, grunting, cyanosis, and radiological findings of bilateral bronchopneumonia. He responded well to intensive therapy, but 11 days later developed hemolytic uremic syndrome, which was treated conservatively with prednisone and plasma transfusions with good response. The hemolytic uremic syndrome resolved, but he subsequently developed severe recurrent infections of unknown etiology and died at the age of 78 days. Necropsy findings revealed necrotizing enterocolitis as well as dysplasia of the thymus and other lymphoid tissues, compatible with the diagnosis of immunodeficiency disorder.