Resumen
Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that is part of a spectrum of disorders known as familial intrahepatic cholestasis. It is characterized by episodes of cholestasis lasting weeks to months with complete resolution between episodes. BRIC is associated with a good prognosis compared to other conditions, due to its later onset and lower association with fibrosis. Diagnosis is one of exclusion, posing a diagnostic challenge that requires a high index of suspicion and is confirmed by identifying the ATP8B1 gene mutation. This report presents the case of a patient with human immunodeficiency virus (HIV) who developed severe intrahepatic cholestasis and had a history of recurrent jaundice throughout his life. After extensive studies of intrahepatic cholestasis, he was diagnosed with symptomatic BRIC with the ATP8B1 gene mutation.
Título traducido de la contribución | Reporte de caso de colestasis intrahepática asociada a mutación del gen ATP8B1 en un paciente con infección por virus de la inmunodeficiencia humana (VIH): un reto diagnóstico |
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Idioma original | Inglés |
Páginas (desde-hasta) | 323-327 |
Número de páginas | 5 |
Publicación | Revista Colombiana de Gastroenterologia |
Volumen | 39 |
N.º | 3 |
DOI | |
Estado | Publicada - 01 jul. 2024 |
Publicado de forma externa | Sí |