RESUMEN
Mucormycosis is a rare fungal infection that typically affects severely immunocompromised individuals, often resulting in significant morbidity and mortality. Although early and aggressive intervention is necessary to prevent poor outcomes, diagnosis of this infection remains difficult. We report the first case, to our knowledge, of invasive gastrointestinal mucormycosis initially identified by next-generation sequencing of cfDNA from the blood, and discuss the various benefits and challenges which come with new molecular diagnostic techniques.
Asunto(s)
Ácidos Nucleicos Libres de Células , Mucormicosis , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Huésped Inmunocomprometido , Mucormicosis/diagnóstico , Mucormicosis/tratamiento farmacológicoRESUMEN
Autoimmune hepatitis (AIH) is an immune-mediated, inflammatory liver disease. Clinical presentation of AIH in children is highly variable. It can present acutely, chronically, or silently. There are two main types of AIH-type 1 and type 2, which are differentiated and defined by the presence of specific autoantibodies. AIH eventually progresses to cirrhosis when left untreated, and occasionally even with treatment. AIH must be suspected and excluded in all children presenting with signs of acute, prolonged, or severe liver disease. The diagnosis of AIH is made by a combination of clinical manifestations, laboratory evaluation, histopathology, and the exclusion of other more common liver diseases. The best outcome for AIH is dependent on early diagnosis as well as early initiation of immunosuppressant therapy. [Pediatr Ann. 2018;47(2):e81-e86.].