Symptoms, Effects, And Treatment Of Cystic Fibrosis

Cystic Fibrosis (CF) is a multi-system autosomal recessive disorder affecting the lungs, GI tract, and reproductive organs. It leads to the dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. It affects 1 in 2,500 new-born babies worldwide, with double these figures in Ireland.

In normal individual, epithelial ion channels provide a thin layer of surface liquid which are crucial in mucus and bacterial removal from the body. The body developed a certain mechanism to maintain this action to prevent bacterial infection in both upper and lower airways. CF is a case where a disturbance to the ion channel occur and thus, reduction in normal surface layer secretion that protect the respiratory system from infections.

Another symptom would be pancreatic insufficiently. Which affect 85% of cystic fibrosis carriers in a stage in their lives. In this disease, the quantity of the pancreatic enzymes is declined below the required number for normal digestion promoting malabsorption of proteins. As that said, both normal digestion and GI activity would be interrupted leading to further difficulties and give rise to more complex diseases. The patient and the medical staff will not be able to focus in one issue without taken to consideration the other one.

Cystic Fibrosis affects the reproduction tract as 95% of the carrier males are infertile6. The structure known as vas deferens is absent from that region too. It impacts the development and function of testicular spermatogenesis which will not allow the male to have children in the future. Meaning, the chances of having children in the future are relatively low.

It is vital to distinguish CF from other disorders by creating special mechanism to differentiate between the diversity of disease. Sweat chloride test is the major diagnostic criteria to expose CF where measurement of chloride levels in sweat takes place as it may indicate to a problem with the ion-water channels which may create a CFTR dysfunction. Laboratory test for pancreatic enzymes, mutation in the genotype of CFTR, and infertility all indicated to CF.

In some cases, lung transplantation is considered as the last resort after noticing a major declining in the patient health. It is hard to obtain due to the lack of donors. Patient would enter a waiting list if he had a chance to live for more than few years after the surgery. He must not have any other medical cases which would interfere with the outcome of the operation. The remaining life expectancy of the patients is taken into notice as patients with shorter lifespan would perform the transplantation first after matching all other conditions.

The journey to cure and provide a beneficial healthcare to patients with CF is long and should start since childhood. Nowadays, new drugs have been introduced to aid in this journey. A therapeutic option, CFTR modulators, which provide a functional CFTR by dealing with the mutation in the first place, and expressing the functional phenotype of the CFTR. Another aspect other than drugs is exercising, it boost the general health and provide positivity, stress-reliever, and it contribute to good moods. Finally, Patient physco-social support like education for family and him and consult Management of CF is through a multidisciplinary approach which involves respiratory physicians, dietitian, specialist nurse, physiotherapies, consulters, and GPs.

References

1. Lenihan M, Mullane D, Buggy D, Flood G, Griffin M. Anesthesia for Lung Transplantation in Cystic Fibrosis: Retrospective Review from the Irish National Transplantation Centre. Journal of Cardiothoracic and Vascular Anesthesia. 2017;.
2. Bartoszewski R, Matalon S, Collawn J. Ion channels of the lung and their role in disease pathogenesis. American Journal of Physiology-Lung Cellular and Molecular Physiology. 2017;313(5):L859-L872.
3. Luan X, Belev G, Tam J, Jagadeeshan S, Hassan N, Gioino P et al. Cystic fibrosis swine fail to secrete airway surface liquid in response to inhalation of pathogens. Nature Communications. 2017;8(1).
4. Singh V, Schwarzenberg S. Pancreatic insufficiency in Cystic Fibrosis. Journal of Cystic Fibrosis. 2017;16:S70-S78.
5. Othman M, Harb D, Barkin J. Introduction and practical approach to exocrine pancreatic insufficiency for the practicing clinician. International Journal of Clinical Practice. 2018;:e13066.
6. de Souza D, Faucz F, Pereira-Ferrari L, Sotomaior V, Raskin S. Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. Andrology. 2017;6(1):127-135.
7. de Souza D, Faucz F, Pereira-Ferrari L, Sotomaior V, Raskin S. Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. Andrology. 2017;6(1):127-135.
8. Servidoni M, Gomez C, Marson F, Toro A, Ribeiro M, Ribeiro J et al. Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil. Jornal Brasileiro de Pneumologia. 2017;43(2):121-128.
9. Harutyunyan M, Huang Y, Mun K, Yang F, Arora K, Naren A. Personalized Medicine in CF: From Modulator Development to Therapy for Cystic Fibrosis Patients with Rare CFTR Mutations. American Journal of Physiology-Lung Cellular and Molecular Physiology, 2017.