Toma Haneen M, Al-Naimi Amal R, Abouhazima Khaled
Pediatric Pulmonology, Sidra Medicine, Doha, QAT.
Pediatric Gastroenterology, Sidra Medicine, Doha, QAT.
Cureus. 2025 Feb 3;17(2):e78408. doi: 10.7759/cureus.78408. eCollection 2025 Feb.
Cystic fibrosis liver disease (CFLD) is a common complication of cystic fibrosis (CF), typically emerging within the first two decades of life. It significantly impacts both short- and long-term prognosis, being the third leading cause of mortality in this population. We present the case of a child with a rare CF mutation who was diagnosed with CFLD, portal hypertension, esophageal varices, and early-onset CF-related diabetes at the age of 6. This case provides valuable insights into the early onset and progression of CF liver disease, highlighting the importance of timely diagnosis and management.
囊性纤维化肝病（CFLD）是囊性纤维化（CF）的常见并发症，通常在生命的头二十年出现。它对短期和长期预后均有显著影响，是该人群中第三大死亡原因。我们报告了一例患有罕见CF突变的儿童病例，该儿童在6岁时被诊断出患有CFLD、门静脉高压、食管静脉曲张和早发性CF相关糖尿病。该病例为CF肝病的早期发病和进展提供了有价值的见解，突出了及时诊断和管理的重要性。
