Cystic fibrosis research article
Published : January 3, 2022

Cystic fibrosis Treatment Options Discrepancy Globally

Author : Rifa Gowani

Rifa A. Gowani

Jasper High School, Plano Texas

To contact Rifa A. Gowani please contact UMOCK

Abstract

Cystic fibrosis, or rather known as CF, is a common monogenic disease caused by genetic mutation on CFTR on chromosome 7. Progressive obstructive pulmonary disease, sinusitis, exocrine pancreatic insufficiency leading to malabsorption and malnutrition, liver and pancreatic dysfunction, and male infertility are all characteristics of the disease. Persistent pulmonary infections are caused by a lack of CFTR or its decreased function, leading to bronchiectasis and progressive lung destruction. Despite the fact that CF patients' lives are shortening, early diagnosis has helped improve patients' life span to a median age of around 50 years, including newborn screening, mild form identification, and a proactive therapy approach. Pancreatic enzyme replacement, respiratory physiotherapy, mucolytics, and strong antibiotic therapy are among treatments for CF. For the majority of people with severe symptoms, a lung or liver transplant is necessary. The CFTR protein is affected by a large number of mutations, each of which have diverse effects. Despite advances in our understanding of CFTR function and contemporary therapy, most of our knowledge of cystic fibrosis remains unclear. With the recent addition of mutation-specific treatments, future advances in health and quality of life for people with CF are likely to improve. The focus of research is on novel medications that restore CFTR function, some of which are now accessible and have a positive therapeutic impact, while others are showing promising preliminary results.

Article

Cystic fibrosis, or rather known as CF, is a common monogenic disease caused by a genetic mutation on CFTR on chromosome 7. Progressive obstructive pulmonary disease, sinusitis, exocrine pancreatic insufficiency leading to malabsorption and malnutrition, liver and pancreatic dysfunction, and male infertility are all characteristics of the disease. Persistent pulmonary infections are caused by a lack of CFTR or its decreased function, leading to bronchiectasis and progressive lung destruction. Despite the fact that cystic fibrosis patients' lives are shortening, early diagnosis has helped improve patients' life span to median age of around 50 years, including newborn screening, mild form identification, and a proactive therapy approach. Pancreatic enzyme replacement, respiratory physiotherapy, mucolytics, and strong antibiotic therapy are among the treatments for CF. For the majority of people with severe symptoms, a lung or liver transplant is necessary. The CFTR protein is affected by a large number of mutations, each of which have diverse effects. Despite advances in our understanding of CFTR function and contemporary therapy, most of our knowledge of cystic fibrosis remains unclear. With the recent addition of mutation-specific treatments, future advances in health and quality of life for people with cystic fibrosis are likely to improve. The research focuses on novel medications that restore CFTR function, some of which are now accessible and have a positive therapeutic impact, while others show promising preliminary results.

Patients with cystic fibrosis (CF), which was considered a deadly condition of newborns and young children, have witnessed tremendous improvements in their health outcomes during the last six decades. Despite the fact that people with cystic fibrosis have a longer life expectancy of a median of 50 years, cystic fibrosis patients are under strain because of the disease's constraints on survival and quality of life.

In the 1980s, the CFTR gene was discovered, which led to an upscale in research. An enhanced understanding of genotype-phenotype relationships of CFafter the 80s. Treatments for cystic fibrosis could only regulate symptoms and limit problems until recently. Improvements in understanding CFTR and gene-specific medications to treat cystic fibrosis have been impressive, and the area is fast expanding.

CFTR modulator medications can improve or even restore the functional expression of certain CF-causing mutations and are divided into five categories based on how they affect CFTR mutations: potentiators, correctors, stabilizers, read-through agents, and amplifiers. Pharmaceutical medicines improve patients' lives with short- and long-term improvements in clinical outcomes, primarily since CFTR modulators have reached the market. This finding has cleared the path for new CFTR modulators to be developed. The high cost of CFTR modulators for usage has raised concerns about the affordability of new medicines and highlighted the significant disparity in health outcomes for cystic fibrosis patients between high-income and low-income and middle-income nations.

Early diagnosis through the adoption of newborn screening programs, decreased malnutrition with the use of successful pancreatic enzyme replacement, and a high-energy, high-protein diet and structured airway clearing treatment are just a few of the advances in clinical care. In high-income nations, center-based care has become prevalent, allowing cystic fibrosis patients to benefit from the expertise of specialist teams. Drugs that target airway mucus are increasingly available as pharmacological therapies for respiratory symptoms. Antibiotic eradication treatment in early-stage infections and chronic infection maintenance therapy procedures are examples of antimicrobial treatments. Despite the recent breakthrough with CFTR modulators for cystic fibrosis, the discovery of new mucolytic, anti-inflammatory, and anti-infective medicines will likely continue to be vital, particularly for individuals with more advanced stages of lung disease.

Cystic fibrosis complications are becoming increasingly common as the median age of cystic fibrosis patients grows, owing to the considerable increase in the adult population living with the disease. To guarantee that enough highly skilled specialists are present in cystic fibrosis facilities, they must address the requirements of aging patients, and new technology must be implemented to improve patient-provider communication.

Building and developing cystic fibrosis care on a global scale is significant; however, there are numerous opportunities for improved care and health outcomes for patients in countries with established cystic fibrosis care programs as well as in low-income countries where integrated multidisciplinary care is not available and resources are scarce. To ensure that all cystic fibrosis sufferers have access to high-quality health care in the future, a sustained effort is required.

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