How Cystic Fibrosis Can Lead To Death Of The Patients

Abstract

As Cystic fibrosis is a genetic disease there are many adenoviral gene therapy and several amenable to gene therapy patients are currently undergoing early-phase clinical trials which cannot able to cure the disease but able to increase the life expectancy above 36 years. As there is no specific treatment available for cystic fibrosis so there are many complications appear. I will find which complication of cystic fibrosis can lead to death of the patients.

Introduction

An ion transport disorder in epithelial cells which affects the secretion in exocrine and the lining of the epithelial of the respiratory, reproductive tracts and gastrointestinal is known as cystic fibrosis. It is an autosomal recessive disease, mutation occur on both of the allele of affected individual.

Discussion

The most common of all complication of cystic fibrosis is exocrine pancreatic insufficiency which is associated with severer CFTR mutations on both alleles, which occurs 85%- 90% of patients with cystic fibrosis whereas other 10% - 15% of patients who have one severe and one mild CFTR mutation or two mild CFTR mutations allow enough pancreatic exocrine function not to require enzyme supplementation. As a result, there will be malabsorption of protein and fecal loss will increase. In the first year of life manifestation of metabolism will appear. A subset of patients with pancreas-sufficient cystic fibrosis can have idiopathic chronic pancreatitis, which associated with recurrent abdominal pain, which will lead to life- threatening complications. Idiopathic chronic pancreatitis can occur as a complication mostly have nonclassic or atypical cystic fibrosis who have mutations of bi-allelic CFTR.

Idiopathic chronic pancreatitis can appear as an isolated late-onset because of finding in the absence of other stigmata of cystic fibrosis. The most common complication, which leads to death of the patients, associated with cardiorespiratory complications such as persistent lung infections, obstructive pulmonary disease, and cor pulmonale. 80 % of patients with classic cystic fibrosis harbor Pseudomonas Aeruginosa at the age of 18. Individuals who carry one severe and one mild CFTR mutation may develop late-onset mild pulmonary disease, which is also nonclassic or atypical cystic fibrosis. Recurrent sinonasal polyps can occur in up to 25% of individuals with cystic fibrosis so it necessary children who present with recurrent sinonasal polyps finding should be tested for cystic fibrosis.

The second most common cause of death in cystic fibrosis after cardiopulmonary is liver disease. The natural history of cystic fibrosis liver disease occur in late. Up to a third of individuals has its onset at or around puberty asymptomatic hepatomegaly who have symptomatic or biochemical liver disease. Obstruction presents with abdominal pain and the acute onset of jaundice of the common bile duct may occur due to stones or sludge. Less than 10% of individuals with cystic fibrosis develops diffuse biliary cirrhosis.

Conclusion

Complications that lead to death of the patients associated with cardiorespiratory complications. In many patients, there has been an unfortunate resurgence of resistant strains of Pseudomonas Aeruginosa in many patients because of indiscriminate the use of antibiotic prophylaxis against Staphylococcus.

Reference

Robbins & Cotran Pathologic Basis of Disease, Vinay Kumar (Author), Abul K. Abbas (Author), Jon C. Aster (Author), Nelson Fausto, 8ed.