prikaz prve stranice dokumenta Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report
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Scientific paper - Case study
Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report
Croatian medical journal, 60 (2019), 3; 246-249. urn:nbn:hr:184:091329
Turkalj, Marijana; Matišić, Vid; Šimić, Arijana; Juginović, Alen; Erceg, Damir; Tješić Drinković, Dorian; Hoeppner, Wolfgang; Primorac, Dragan

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Turkalj, M., Matišić, V., Šimić, A., Juginović, A., Erceg, D., Tješić Drinković, D. ... Primorac, D. (2019). Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report. Croatian medical journal, 60. (3), 246-249. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:091329

Turkalj, Marijana, et al. "Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report." Croatian medical journal, vol. 60, no. 3, 2019, pp. 246-249. https://urn.nsk.hr/urn:nbn:hr:184:091329

Turkalj, Marijana, Vid Matišić, Arijana Šimić, Alen Juginović, Damir Erceg, Dorian Tješić Drinković, Wolfgang Hoeppner and Dragan Primorac. "Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report." Croatian medical journal 60, no. 3 (2019): 246-249. https://urn.nsk.hr/urn:nbn:hr:184:091329

Turkalj, M., et al. (2019) 'Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report', Croatian medical journal, 60(3), pp. 246-249. Available at: https://urn.nsk.hr/urn:nbn:hr:184:091329 (Accessed 17 May 2024)

Turkalj M, Matišić V, Šimić A, Juginović A, Erceg D, Tješić Drinković D, and sur.. Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report. Croatian medical journal [Internet]. 2019 [cited 2024 May 17];60(3):246-249. Available at: https://urn.nsk.hr/urn:nbn:hr:184:091329

M. Turkalj, et al., "Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report", Croatian medical journal, vol. 60, no. 3, pp. 246-249, 2019. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:091329. [Accessed: 17 May 2024]

Metadata
Title (english)Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report
AuthorMarijana Turkalj
AuthorVid Matišić
AuthorArijana Šimić
AuthorAlen Juginović
AuthorDamir Erceg
AuthorDorian Tješić Drinković
AuthorWolfgang Hoeppner
AuthorDragan Primorac
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (english)
The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in a 15-year-old female patient who is a compound heterozygote for CFTR gene, with delta F508 and Tyr109Glyfs mutations detected. This is the first detailed description of such a case in the medical literature. The primary CF presentation occurred at the age of 9 in the form of gastrointestinal symptoms including greasy, bulky, and foul-smelling stool. The patient exhibited delayed growth, with her height and weight being below the 5th centile for age according to the World Health Organization growth curves. Pancreatic enzyme supplement treatment was started immediately, alongside high-fat and high-calorie diet, resulting in patient’s recovery and development. DNA analysis of CFTR gene demonstrated the presence of del. F508 mutation and a rare combining deletion and insertion mutation p. Tyr109Glyfs. The combination of the two mutations is very rare in CF patients and is therefore valuable to document this case in order to provide information on disease progression, therapy options, and outcomes. With standard treatment and early diagnosis, the patient is currently doing well and is not restricted by the disease in her daily and sports activities.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCroatian medical journal
Numberingvol. 60, no. 3, pp. 246-249
p-ISSN0353-9504
URN:NBNurn:nbn:hr:184:091329
Publication2019
Document URLhttp://bib.irb.hr/1011233
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2022-02-15 11:13:46