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

## TL;DR

A rare mutation in cystic fibrosis leads to severe liver disease and esophageal varices in a young child.

## Contribution

This case report highlights a rare CF mutation associated with early-onset liver disease and portal hypertension.

## Key findings

- A 6-year-old child with a rare CF mutation developed CFLD and esophageal varices.
- The case emphasizes the need for early diagnosis and management of CF-related liver complications.

## 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.