Journal of Genetic Syndromes & Gene Therapy
Open Access

Cystic Fibrosis: A Deep Dive into the Genetic Disease and its Management

Smith Quittner^{* *}Correspondence: Smith Quittner, Department of Medicine, University of National Jewish Health, Denver, USA, Email:

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Description

Cystic Fibrosis (CF) is a life-threatening genetic disorder that affects millions of people worldwide. It is characterized by the accumulation of thick, sticky mucus in various organs, particularly the lungs, pancreas and digestive system. This condition can lead to chronic respiratory infections, difficulty in breathing, poor digestion and a range of other severe health complications [1]. Despite the challenges, advancements in treatment and improving the quality of life and life expectancy for those living with CF. This article explores the causes, symptoms, diagnosis and current treatments of cystic fibrosis, along with the ongoing efforts that offer hope for a better future [2].

CF is an inherited disease resulting from mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. This gene is responsible for producing a protein that controls the movement of salt and water in and out of cells, which is vital for maintaining the proper consistency of mucus in various organs [3]. When the CFTR gene is mutated, the protein it produces becomes defective, leading to the production of abnormally thick and sticky mucus that obstructs airways, blocks ducts in the pancreas and affects other organs.

CF is an autosomal recessive disorder, meaning both parents must carry the defective gene and pass it on to their child for the condition to manifest [4]. The prevalence of CF varies by ethnicity, with the highest rates seen in people of European descent. Approximately 30,000 people in the United States are living with cystic fibrosis, with a global prevalence of about 70,000 individuals.

Symptoms of cystic fibrosis

Chronic cough: Often produces thick, sticky mucus, which can be difficult to clear from the lungs.

Wheezing and shortness of breath: The thick mucus blocks airways and makes it difficult to breathe.

Frequent lung infections: Individuals with CF are more prone to bacterial infections in the lungs, such as Pseudomonas aeruginosa and Staphylococcus aureus, which exacerbate lung damage.

Sinus problems: Chronic sinus infections, nasal congestion and polyps are common due to thick mucus in the nasal passages.

Malnutrition and poor growth: Due to blocked pancreatic ducts, CF patients often have difficulty absorbing nutrients from food, leading to poor weight gain and stunted growth, even with a normal appetite [5].

Fatty stools: The inability to digest fats properly leads to greasy, foul-smelling stools.

Intestinal blockages: CF can cause constipation and other digestive issues, including meconium ileus in newborns, a condition where the intestine is blocked by thick meconium.

Diagnosing cystic fibrosis: Cystic fibrosis is typically diagnosed through a combination of genetic testing, clinical evaluation and sweat tests. A sweat test, which measures the concentration of chloride in the sweat, is the standard diagnostic tool. Individuals with CF tend to have elevated chloride levels, indicating the dysfunction of the CFTR protein [6]. Genetic testing can also identify mutations in the CFTR gene, which further confirms the diagnosis. If a diagnosis is not made at birth, CF may be suspected based on symptoms, family history or abnormal findings from tests such as chest X-rays or lung function tests [7].

Treatment and management

Although there is no cure for cystic fibrosis, treatments have improved dramatically over the past few decades, allowing people with CF to live longer and healthier lives.

Airway Clearance Techniques (ACTs): ACTs are methods designed to help clear mucus from the lungs. This includes chest physiotherapy, where the chest is gently tapped to loosen mucus, as well as the use of mechanical devices to support airway clearance [8].

Inhaled medications: Bronchodilators, mucolytics and antibiotics are inhaled to help open airways, thin mucus and treat lung infections. In some cases, anti-inflammatory drugs are prescribed to reduce lung inflammation [9].

Nutritional support: Individuals with CF often require enzyme replacement therapy to assist in the digestion and absorption of nutrients, especially fats. Vitamin supplements (A, D, E and K) are necessary to compensate for malabsorption and some patients may also need tube feeding or intravenous nutrition if oral intake is insufficient [10].

CFTR modulator therapy: One of the most significant in CF treatment has been the development of CFTR modulator therapies. Drugs like ivacaftor (Kalydeco), lumacaftor (Orkambi) and tezacaftor (Symdeko) aim to correct the defective CFTR protein, improving its function and helping to reduce mucus production.

Lung transplantation: In cases of severe lung damage, lung transplants may be considered. Though this option comes with significant risks, it can offer a new lease on life for people with advanced CF-related lung disease.

Conclusion

Cystic fibrosis is a challenging genetic disorder with a impact on multiple systems in the body, but ongoing medical advancements are giving those affected by CF more hope than ever before. Early detection, improved respiratory treatments, personalized therapies and the development of CFTR modulators have all contributed to better health outcomes for CF patients. Although a cure remains elusive, the progress made in the treatment of cystic fibrosis is a testament to the dedication of healthcare providers, researchers and advocacy groups.

As study continues, the future looks for those living with cystic fibrosis. Innovative therapies, including gene therapy and personalized medicine, may eventually offer a cure or better long-term management options. Until then, individuals with CF continue to benefit from better treatments, enabling them to live longer, healthier lives.

References

1. Seylanova N, Chernyavskaya A, Degtyareva N, Mursalova A, Ajam A, Xiao L, et al. Core outcome measurement set for research and clinical practice in post-COVID-19 condition (long COVID) in children and young people: an international Delphi consensus study “PC-COS Children”. Eur Respir J. 2024;63(3):64.

   [Crossref] [Google Scholar] [PubMed]

2.  Chaplin S. Literature review: Transition from paediatric to adult services in haemophilia. Haemnet. 2016;2(2):29-51.

   [Crossref] [Google Scholar]

3. Bartkowski M, Zhou Y, Nabil Amin Mustafa M, Eustace AJ, Giordani S. CARBON DOTS: Bioimaging and anticancer drug delivery. Chem Eur J. 2024;30(19):e202303982.

   [Crossref] [Google Scholar] [PubMed]

4. King L. Abstracts for the 43rd Human genetics society of australasia annual scientific meeting. Twin Res Hum Genet. 2019;22(5):371-418.

   [Crossref] [Google Scholar] [PubMed]

5. Chang AB, Fortescue R, Grimwood K, Alexopoulou E, Bell L, Boyd J, et al. European respiratory society guidelines for the management of children and adolescents with bronchiectasis. Eur Respir J. 2021;58(2):60.

   [Crossref] [Google Scholar] [PubMed]

6. Feldmann M, Maini RN, Woody JN, Holgate ST, Winter G, Rowland M, et al. Trials of anti-tumour necrosis factor therapy for COVID-19 are urgently  needed. Lancet. 2020;395(10234):1407-1409.

   [Crossref] [Google Scholar] [PubMed]

7. Comeau AM, Accurso FJ, White TB, Campbell III PW, Hoffman G, Parad RB, et al. Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics. 2007;119(2):e495-518.

   [Crossref] [Google Scholar] [PubMed]

8. Morice AH, Millqvist E, Bieksiene K, Birring SS, Dicpinigaitis P, Ribas CD, et al. ERS guidelines on the diagnosis and treatment of chronic cough in adults and children. Eur Respir J. 2020;55(1):56.

   [Crossref] [Google Scholar] [PubMed]

9. Glencross BD, Baily J, Berntssen MH, Hardy R, MacKenzie S, Tocher DR. Risk assessment of the use of alternative animal and plant raw material resources in aquaculture feeds. Reviews in Aquaculture. 2020;12(2):703-758.

   [Crossref] [Google Scholar]

10. Turck D, Braegger CP, Colombo C, Declercq D, Morton A, Pancheva R, et al. ESPEN-ESPGHAN-ECFS guidelines on nutrition care for infants, children and adults with cystic fibrosis. Clin Nutr. 2016;35(3):557-577.

    [Crossref] [Google Scholar] [PubMed]