Portillo Miño José Dario, Cerón Muñoz Efrén Esteban
School of Medicine, San Martin University Foundation, Hospital Universitario Departamental de Nariño, From Department of Pediatrics, Hospital Infantil Los Angeles, Pasto (Nariño), Colombia.
Valle of University, From Department of Pediatrics, Hospital Infantil Los Angeles, Pasto (Nariño), Colombia.
Respir Med Case Rep. 2020 May 30;30:101110. doi: 10.1016/j.rmcr.2020.101110. eCollection 2020.
This case report attempts an approach to the clinical findings of hepatobiliary manifestations in Cystic Fibrosis. Infant less than 1-month-old with an insidious clinical picture that debut with hepatobiliary manifestations and jaundice, upper respiratory infection and gastrointestinal sepsis non-specific. Cystic Fibrosis is the most frequent autosomal recessive clinical condition in Caucasians. It is associated with liver involvement around 30%. In children, hepatobiliary symptoms occur at puberty when damage to the liver system is in advanced stages. The atypical presentation of Cystic Fibrosis with liver involvement is very rare and lethal. Understanding the different form of Cystic Fibrosis, it is essential for early diagnosis and to achieve integral management.
本病例报告尝试探讨囊性纤维化肝胆表现的临床发现。一名不到1个月大的婴儿，临床症状隐匿，首发为肝胆表现、黄疸、上呼吸道感染和非特异性胃肠道败血症。囊性纤维化是白种人中最常见的常染色体隐性临床病症。约30%的患者伴有肝脏受累。在儿童中，肝胆症状在青春期出现，此时肝脏系统损伤已处于晚期。伴有肝脏受累的囊性纤维化非典型表现非常罕见且致命。了解囊性纤维化的不同形式，对于早期诊断和实现综合管理至关重要。
