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

Turkalj, Mirjana and Matišić, Vid and Šimić, Arijana and Juginović, Alen and Erceg, Damir and Tješić Drinković, Dorian and Höppner, Wolfgang and Primorac, Dragan (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. ISSN 0353-9504

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Abstract

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.

Item Type: Article
MeSH: Adolescent ; Child ; Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Cystic Fibrosis/therapy ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Female ; Heterozygote ; Humans ; INDEL Mutation
Departments: Katedra za pedijatriju
Depositing User: Kristina Berketa
Status: Published
Creators:
CreatorsEmail
Turkalj, MirjanaUNSPECIFIED
Matišić, VidUNSPECIFIED
Šimić, ArijanaUNSPECIFIED
Juginović, AlenUNSPECIFIED
Erceg, DamirUNSPECIFIED
Tješić Drinković, DorianUNSPECIFIED
Höppner, WolfgangUNSPECIFIED
Primorac, DraganUNSPECIFIED
Date: 13 June 2019
Date Deposited: 18 Sep 2019 11:25
Last Modified: 18 Sep 2019 11:25
Subjects: /
Related URLs:
URI: http://medlib.mef.hr/id/eprint/3374

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