Work

Rare Mutation in Cystic Fibrosis as a Cause of Early-Onset Liver Disease and Esophageal Varices

Year: 2025

Type: article

Abstract: 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.

Source: Cureus

DOI: 10.7759/cureus.78408

Authors: Haneen M Toma, Amal R Al-Naimi, Khaled Abouhazima

Institution: Sidra Medical and Research Center

Language: English

Topic: Cystic Fibrosis Research Advances

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4407108388