CYSTIC FIBROSIS

Cystic Fibrosis

Table of Contents

Introduction3

Definition4

Etiology5

Causes7

Treatment8

Breathing Treatments9

The Lung Transplant10

Complications11

Conclusion12

References14

Cystic Fibrosis

Introduction

Cystic fibrosis (CF) is an autosomal recessive disorder that affects approximately 1 in 3000 Caucasian births, or 30,000 individuals in the US and 70,000 worldwide. It is the most common life-shortening genetic disorder in the White population, and less frequently other racial and ethnic groups. Mutations of the cystic fibrosis transmembrane regulator (CTFR) gene account for the clinical manifestations of the disease; about 1500 mutations in CFTR are described, but only 22 occur with significant frequency and the phenotypical distribution varies considerably. The most common mutation, occurring in 70% of patients is the F508del, which results in an abnormal protein that is largely ubiquitinated in the endoplasmic reticulum and degraded in the proteasome. CFTR is found on apical membranes of epithelial cells and functions as a chloride channel. A nonfunctioning CFTR restricts chloride secretion and increases sodium reabsorption, limiting the amount of water that can passively move across the epithelium. This depletes the airway surface liquid, which in turn impairs mucociliary clearance. The result is impaired host defenses and chronic bacterial airway infection.

CF is also characterized by a hyperactive airway inflammatory response which cannot be fully accounted for by chronic bacterial infections. CF patients usually present in infancy or childhood with failure to thrive due to pancreatic insufficiency, chronic cough and sputum production, persistent lung and sinus infections, nasal polyps, and digital clubbing. Other presenting manifestations include biliary cirrhosis, rectal prolapse, hypoproteinemia, salt loss syndrome and obstructive azoospermia. Respiratory failure accounts for over 90% of deaths (National Center for Biotechnology Information, 2011). Classic CF is the result of two mutations that cause severe disease. Nonclassic disease has at least one mutant CFTR allele that confers partial function and these patients are generally diagnosed later in life. There is great variability in phenotype and survival in CF. This variability exists even in patients homozygous for F508del and is likely due to modifier genes and poorly understood environmental factors.

Definition

Cystic fibrosis (CF) is a fatal genetic disorder that affects many organ systems ¡n the body. Historically, few patients with CF lived beyond early childhood, but with continuous improvement in treatment modalities, quality of life and the life span of persons with CF have greatly improved. As the surviving population of people with CF increases, a greater chance of encountering them in anesthesia practice exists. Co morbidities associated with the disease, such as diabetes mellitus and osteopenia, may also contribute to an increased frequency of surgical and anesthetic encounters. An understanding of the pathophysiology of the disease, as well as anesthetic implications and management, is crucial to the safe administration of anesthesia in this population. Cystic fibrosis is traditionally thought of as a childhood disease affecting the lungs and pancreas, which does not accurately describe the disease in its entirety. Many organ systems are affected, from the heart and lungs to the reproductive system, and may warrant alterations in an anesthetic plan. This review highlights the pathologic conditions associated with multiple systems, therapy regimens, and ...