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Pregled bibliografske jedinice broj: 1011233

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


Mirjana Turkalj, Vid Matišić, Arijana Šimić, Alen Juginović, Damir Erceg, Dorian Tješić Drinković, Wolfgang Höppner, Dragan Primorac.
Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report // Croatian medical journal, 60 (2019), 3; 246-249 (recenziran, članak, znanstveni)


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Naslov
Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report

Autori
Mirjana Turkalj, Vid Matišić, Arijana Šimić, Alen Juginović, Damir Erceg, Dorian Tješić Drinković, Wolfgang Höppner, Dragan Primorac.

Izvornik
Croatian medical journal (0353-9504) 60 (2019), 3; 246-249

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
cystic fibrosis, CFTR gene, children

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove:
Medicinski fakultet, Rijeka,
Medicinski fakultet, Osijek,
Dječja bolnica Srebrnjak,
Hrvatsko katoličko sveučilište, Zagreb,
Fakultet za dentalnu medicinu i zdravstvo, Osijek

Citiraj ovu publikaciju

Mirjana Turkalj, Vid Matišić, Arijana Šimić, Alen Juginović, Damir Erceg, Dorian Tješić Drinković, Wolfgang Höppner, Dragan Primorac.
Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report // Croatian medical journal, 60 (2019), 3; 246-249 (recenziran, članak, znanstveni)
Mirjana Turkalj, Vid Matišić, Arijana Šimić, Alen Juginović, Damir Erceg, Dorian Tješić Drinković, Wolfgang Höppner, Dragan Primorac. (2019) Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report. Croatian medical journal, 60 (3), 246-249.
@article{article, year = {2019}, pages = {246-249}, keywords = {cystic fibrosis, CFTR gene, children}, journal = {Croatian medical journal}, volume = {60}, number = {3}, issn = {0353-9504}, title = {Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report}, keyword = {cystic fibrosis, CFTR gene, children} }
@article{article, year = {2019}, pages = {246-249}, keywords = {cystic fibrosis, CFTR gene, children}, journal = {Croatian medical journal}, volume = {60}, number = {3}, issn = {0353-9504}, title = {Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report}, keyword = {cystic fibrosis, CFTR gene, children} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





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