THE JOURNAL OF SCHOOL AND UNIVERSITY MEDICINE - Volume 10, Issue 1, January-March 2023
Pages: 5-12
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DELAYED DIAGNOSIS OF CYSTIC FIBROSIS. OPTIMISTIC OUTLOOK FOR THE NEXT DECADES. A LITERATURE REVIEW AND CASE REPORT
Author: Camelia-Aurora Biciusca
Category: Medical
Abstract:
Cystic fibrosis (Mucoviscidosis), although classified as a rare disease, is the most common monogenic disease with autosomal recessive transmission in the Caucasian population. The average incidence for Europe is 1/2500 births. It is caused by mutations in the gene that produces the CF transmembrane conductance regulator protein (CFTR) - Cystic Fibrosis Transmembrane Conductance Regulator, which is responsible for regulating the flow of salt and fluids in the cell and results in the accumulation of viscous mucus in the lumen of the airways and damage to almost all exocrine glands.
The clinical picture is variable, the typical form being characterized by the triad: steatorrhea, weight stagnation and respiratory manifestations. The classic form is diagnosed around the age of two, but there are also atypical forms, with an incomplete clinical-biological picture and mild evolution, which can remain undiagnosed for a longer period of time. However, they are not excluded from a good recovery and stabilization, with a good prognosis in the medium and long term. The condition is a correct management of the disease, by placing the patient under the strict monitoring of a multidisciplinary team of specialists, as well as by ensuring access to treatment.
This presentation aims to highlight the causes that can determine a delayed diagnosis of CF, the major importance of the existence of multidisciplinary teams in diagnostic and treatment centers for CF, as well as the development of effective means of treatment both in Europe and in Romania. CF is no longer an incurable and disabling disease, patients can live a normal life, looking optimistically towards a distant future.
Keywords: Cystic fibrosis, delayed diagnosis, multidisciplinary team, optimistic outlook (prognosis)
DOI: 10.51546/JSUM.2023.10101
DOI URL: https://doi.org/10.51546/JSUM.2023.10101
References:
1. National Organisation for Rare Disorders/NORD. Cystic Fibrosis - Symptoms, Causes, Treatment. Last update 25.06.2020. Available from: https://rarediseases.org/rare-diseases/cystic-fibrosis/ Assessed on: 15.03.2023.
2. Yu E; Sandeep Sharma. Cystic Fibrosis. StatPearls [Internet]. Last Update: August 8, 2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK493206/. Assessed on: 15.03.2023.
3. Chen Q, Shen Y, Zheng J. A review of cystic fibrosis: Basic and clinical aspects. 2021; 4(3): 220–232.
4. Ehre C, Ridley C, Thornton DJ. Cystic fibrosis: an inherited disease affecting mucin-producing organs. Int J Biochem Cell Biol. 2014;52:136-45.
5. Naehrlich L, Bagheri-Behrouzi A. German CF quality assurance group. Misdiagnosis of cystic fibrosis: experience from Germany. J Cyst Fibros. 2013;12(1):68-739.
6.Gallati S. Disease-modifying genes and monogenic disorders: experience in cystic fibrosis. Appl Clin Genet. 2014 Jul 10;7:133-46.
7. Liou T. Cystic fibrosis – Orphanet. Last update: October 2020. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=586. Assessed on: 15.03.2023.
8. National Program of Cystic Fibrosis. “Marius Nasta Institute of Pneumology”, Bucharest, 2018. Available from: www.marius-nasta.ro/A National Program of Health/Cystic Fibrosis. Assessed on: 15.03.2023.
9. Cystic Fibrosis Foundantion. Types of CFTR Mutations. Available from https://www.cff.org/research-clinical-trials/types-cftr-mutations. Assesed on: 27.03.2023.
10.Tsui LC, Dorfman R. The cystic fibrosis gene: a molecular genetic perspective. Cold Spring Harb Perspect Med. 2013; 3(2):a009472.
11. CF Foundation. CF Genetics: The Basics-Cystic Fibrosis Foundation. Available from: https://www.cff.org/intro-cf/cf-genetics-basics. Assessed on: 15.03.2023
12. Kreda SM, Davis CW, Rose MC. CFTR, mucins, and mucus obstruction in cystic fibrosis. Cold Spring Harb Perspect Med. 2012; 2(9):a009589.
13. Fahy JV, Dickey BF. Airway mucus function and dysfunction. N Engl J Med. 2010; 363(23):2233-47.
14.Gelfond D, Borowitz D. Gastrointestinal complications of cystic fibrosis. Clin Gastroenterol Hepatol. 2013; 11(4): 333-42; quiz e30-1.
15. Sherwood JS, Ullal J, Kutney K, Hughan KS. Cystic fibrosis related liver disease and endocrine considerations. J Clin Transl Endocrinol. 2021;27:100283.
16. Schäfer, J, Griese M, Chandrasekaran R et al. Pathogenesis, imaging and clinical characteristics of CF and non-CF bronchiectasis. BMC Pulm Med. 2018;18:79. Available from: https://doi.org/10.1186/s12890-018-0630-8. Assessed on: 15.03.2023
17. Schmidt H, Sharma G. Sweat Testing. StatPearls [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK547728/. Assessed on: 15.03.2023.
18. LeGrys VA, Briscoe D, McColley SA. Clinical and Laboratory Standards Institute. Sweat Testing: Specimen Collection and Quantitative. Available from: https://clsi.org/media/3024/c34ed4_sample.pdf. Assessed on:15.03.2023.
19. Cystic Fibrosis Foundation, Sweat Test, Available from: https://www.cff.org/What-is-CF/Testing/Sweat-Test/. Assesed on 27.03.2023
20. Popa I. Asociatia Romana de Fibroza Chistica. Available from: http://www.armv.ro/. Assessed on: 15.03.2023.
21. Allen L, Allen L, Carr SB et al. Future therapies for cystic fibrosis. Nat Commu. 2023;14: 693. Available from https://doi.org/10.1038/s41467-023-36244-2. Assessed on: 15.03.2023.
22. Shelby ES, Nedelea FM, Huseyinoglu T, Cocos R , Badina M, Sporea C, Padure L, Mirea A. Terapii inovative în bolile genetice: Fibroza chistic?. Romanian Journal of Pediatrics, 2021; 70(1):16-20.
23. Comegna M, Terlizzi V, Salvatore D, Colangelo C, Di Lullo AM, Zollo I, Taccetti G, Castaldo G, Amato F. Elexacaftor-Tezacaftor-Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del/Unknown Genotype. Antibiotics (Basel). 2021; 10(7):828.
24. Sui H, Xu X, Su Y, Gong Z, Yao M, Liu X, Zhang T, Jiang Z, Bai T, Wang J, Zhang J, Xu C, Luo M. Gene therapy for cystic fibrosis: Challenges and prospects. Front Pharmacol. 2022; 13:1015926.
25. Cystic Fibrosis: late diagnosis. Factsheet, August 2020. Avaiable at: cysticfibrosis.org.uk/publications, Assesed on 27.03.2023
26. Waldhausen JHT, Richards M. Meconium Ileus. Clin Colon Rectal Surg. 2018; 31(2):121-126.
27. De Lisle RC, Borowitz D. The cystic fibrosis intestine. Cold Spring Harb Perspect Med. 2013; 3(9):a009753.
28. Lahiri T, Sullivan JS, Sartorelli KH, Murphy JJ. Delayed Presentation of Meconium Ileus in an Infant With Cystic Fibrosis. Pediatrics. 2020;146(4):e20193717
29. McColley SA, Ren CL, Schechter MS, Regelmann WE, Pasta DJ, Konstan MW; Epidemiologic Study of Cystic Fibrosis. Risk factors for onset of persistent respiratory symptoms in children with cystic fibrosis. Pediatr Pulmonol. 2012; 47(10):966-72.
30. Kang SH, Dalcin Pde T, Piltcher OB, Migliavacca Rde O. Chronic rhinosinusitis and nasal polyposis in cystic fibrosis: update on diagnosis and treatment. J Bras Pneumol. 2015; 41(1):65-76.
31. Silva Filho LV, Ferreira daSF, Reis FJ, Britto MC, Levy CE, Clark O, Ribeiro JD. Pseudomonas aeruginosa infection in patients with cystic fibrosis: scientific evidence regarding clinical impact, diagnosis, and treatment. J Bras Pneumol. 2013; 39(4):495-512.
32. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation Consensus Report. The Journal of Pediatrics, 2017; 181:S4–S15. e1. Available on: www.jpeds.com. Assessed on: 15.03.2023
33. Raina MA, Khan MS, Malik SA, Raina ABH, Makhdoomi MJ, Bhat JI, Mudassar S. Assessment of Correlation between Sweat Chloride Levels and Clinical Features of Cystic Fibrosis Patients. Journal of Clinical and Diagnostic Research, 2016; 10(12): BC01-BC06.
34. Deignan JL, Astbury C, Cutting GR, Del Gaudio D, Gregg AR, Grody WW, Monaghan KG, Richards S; ACMG Laboratory Quality Assurance Committee. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020; 22(8):1288-1295.
35. Ledda RE, Balbi M, Milone F, Ciuni A, Silva M, Sverzellati N, Milanese G. Imaging in non-cystic fibrosis bronchiectasis and current limitations. BJR Open. 2021; 3(1):20210026
36. Wagener JS, Elkin EP, Pasta DJ, Schechter MS, Konstan MW, Morgan WJ; Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis. Pulmonary function outcomes for assessing cystic fibrosis care. J Cyst Fibros. 2015; 14(3):376-83.
37. Vanga RR, Tansel A, Sidiq S, El-Serag HB, Othman MO. Diagnostic Performance of Measurement of Fecal Elastase-1 in Detection of Exocrine Pancreatic Insufficiency: Systematic Review and Meta-analysis. Clin Gastroenterol Hepatol. 2018; 16(8):1220-1228.e4.
38.Gillespie CD, O'Reilly MK, Allen GN, McDermott S, Chan VO, Ridge CA. Imaging the Abdominal Manifestations of Cystic Fibrosis. Int J Hepatol. 2017; 2017:5128760.
39. Blackman SM, Tangpricha V. Endocrine Disorders in Cystic Fibrosis. Pediatr Clin North Am. 2016; 63(4):699-708.
40. Biciusca V, Petrescu IO, Singer CE, Oancea AG, Petrescu AM, Stan IS, Durand P, Taisescu CI, Dumitrescu D, Dobrescu MA, Udristoiu I, Tudorascu DR, Petrescu F. Multidisciplinary approach to patients with manifestations and pulmonary complications of cystic fibrosis. Rom J Morphol Embryol. 2020; 61(2):397-406
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