Cystic fibrosis overview

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

Overview

Cystic fibrosis (CF) is an autosomal recessive disease that caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. This gene codes for a chloride transporter found on the surface of the epithelial cells that line multiple organs especially lungs and GI tract. The mutation results in abnormal viscous mucoid secretions and main clinical features are pancreatic insufficiency and chronic endobronchial infection.[1]

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hereditary pancreatitis from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

References

  1. National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22183/


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