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Medicina interna de México
versión impresa ISSN 0186-4866
Resumen
ROLDAN-TABARES, Mabel Dahiana y RUIZ-MEJIA, Camilo. Atypical hemolytic uremic syndrome: role of the genetic profile. Med. interna Méx. [online]. 2018, vol.34, n.3, pp.394-402. ISSN 0186-4866. https://doi.org/10.24245/mim.v34i3.1865.
The haemolytic uraemic syndrome is a thrombotic microangiopathy (TMA) characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal injury. The typical haemolytic uraemic syndrome (tHUS, the most common) is caused by bacteria that produce Shiga toxin, typically strains of Escherichia coli. On the other hand, the term atypical haemolytic uraemic syndrome (aHUS) is used to refer to those patients who develop this condition due to different etiologies. The clinical and paraclinical manifestations are not enough to differentiate the aHUS from other thrombotic microangiopathies, so the determination of the activity of ADAMTS13 and the Shiga toxin test are essential to establish the precise diagnosis. Although currently the diagnosis requires genetic confirmation, the genetic tests are expensive and not very useful for the initial diagnosis; however, more than diagnostic importance, it has a great prognostic value allowing establishing an adequate management and significantly reducing the morbidity and mortality attributable to this condition.
Palabras llave : Atypical hemolytic uremic syndrome; Microangiopathic hemolytic anemia; Complement pathway, alternative; Thrombocytopenia.