prikaz prve stranice dokumenta Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report
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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

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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. Preuzeto s 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, br. 3, 2019, str. 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 i Dragan Primorac. "Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report." Croatian medical journal 60, br. 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), str. 246-249. Preuzeto s: https://urn.nsk.hr/urn:nbn:hr:184:091329 (Datum pristupa: 24.04.2024.)

Turkalj M, Matišić V, Šimić A, Juginović A, Erceg D, Tješić Drinković D, i sur.. Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report. Croatian medical journal [Internet]. 2019. [pristupljeno 24.04.2024.];60(3):246-249. Dostupno na: 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, br. 3, str. 246-249, 2019. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:091329. [Citirano: 24.04.2024.]

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Naslov (engleski)Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report
AutorMarijana Turkalj
AutorVid Matišić
AutorArijana Šimić
AutorAlen Juginović
AutorDamir Erceg
AutorDorian Tješić Drinković
AutorWolfgang Hoeppner
AutorDragan Primorac
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za medicinsku biologiju i genetiku)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Interna medicina
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Genetika, genomika i proteomika čovjeka
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaCroatian medical journal
Brojčani podacivol. 60, br. 3, str. 246-249
p-ISSN0353-9504
URN:NBNurn:nbn:hr:184:091329
Datum objave publikacije2019
URL dokumentahttp://bib.irb.hr/1011233
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2022-02-15 11:13:46