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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Cystic fibrosis causes

Introduction

Overview

Overview

Cystic fibrosis is caused by mutations in the CFTR gene. The genetic mutations result in defective transport of chloride, and secondarily sodium, by epithelial cells and eventually abnormal viscous mucoid secretions mostly in lungs and GI tract.

Causes

Causes

Genetic Cause

Cystic fibrosis is caused by mutations in the CFTR gene. The genetic mutations result in defective transport of chloride, and secondarily sodium, by epithelial cells and eventually abnormal viscous mucoid secretions mostly in lungs and GI tract.^[1]

References

References

↑ Hull J (June 2012). “Cystic fibrosis transmembrane conductance regulator dysfunction and its treatment”. J R Soc Med. 105 Suppl 2: S2–8. doi:10.1258/jrsm.2012.12s001. PMC 3372304. PMID 22688363.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]