Yıl 2012, Cilt 4 , Sayı 3, Sayfalar 1 - 5 2012-08-17

Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis

Aco KOSTOVSKİ [1] , Nikolina ZDRAVESKA [2] , Stojka FUSTİK [3] , Sonja BOJADZİEVA [4]


Cystic fibrosis (CF) is a recessively inherited disease caused by mutations of the CF transmembrane conductance regulator (CFTR) gene. Patients classically present with evidence of pulmonary disease, malabsorption secondary to pancreatic insufficiency and high sweet chloride concentration. CF has can also be associated with a veriable phenotype which remains a diagnostic challenge. We report a case of a 2 year old girl with CF who initially presented with massive hepatomegaly and jaundice and was firstly suspected of a liver tumor. There was no personal or family history suggestive for CF. The diagnosis of CF liver disease was made after the results of the liver biopsy, sweat test analysis and confirmed with the existence of pathogenic mutation in the CFTR gene. Hepatomegaly and steatosis are known complications of CF but very uncommon as presenting features that lead to the diagnosis of CF. This report emphasizes the difficulty and importance of diagnosing cystic fibrosis in unusual patients.
hepatomegaly, steatosis, jaundice, CF liver disease
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Birincil Dil en
Bölüm Case Reports
Yazarlar

Yazar: Aco KOSTOVSKİ

Yazar: Nikolina ZDRAVESKA

Yazar: Stojka FUSTİK

Yazar: Sonja BOJADZİEVA

Tarihler

Yayımlanma Tarihi : 17 Ağustos 2012

Bibtex @ { jps202225, journal = {Journal of Pediatric Sciences}, issn = {}, eissn = {1309-1247}, address = {}, publisher = {Bilal YILDIZ}, year = {2012}, volume = {4}, pages = {1 - 5}, doi = {10.17334/jps.60821}, title = {Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis}, key = {cite}, author = {Kostovski̇, Aco and Zdraveska, Nikolina and Fusti̇k, Stojka and Bojadzi̇eva, Sonja} }
APA Kostovski̇, A , Zdraveska, N , Fusti̇k, S , Bojadzi̇eva, S . (2012). Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis . Journal of Pediatric Sciences , 4 (3) , 1-5 . Retrieved from https://dergipark.org.tr/tr/pub/jps/issue/19087/202225
MLA Kostovski̇, A , Zdraveska, N , Fusti̇k, S , Bojadzi̇eva, S . "Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis" . Journal of Pediatric Sciences 4 (2012 ): 1-5 <https://dergipark.org.tr/tr/pub/jps/issue/19087/202225>
Chicago Kostovski̇, A , Zdraveska, N , Fusti̇k, S , Bojadzi̇eva, S . "Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis". Journal of Pediatric Sciences 4 (2012 ): 1-5
RIS TY - JOUR T1 - Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis AU - Aco Kostovski̇ , Nikolina Zdraveska , Stojka Fusti̇k , Sonja Bojadzi̇eva Y1 - 2012 PY - 2012 N1 - DO - T2 - Journal of Pediatric Sciences JF - Journal JO - JOR SP - 1 EP - 5 VL - 4 IS - 3 SN - -1309-1247 M3 - UR - Y2 - 2021 ER -
EndNote %0 Journal of Pediatric Sciences Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis %A Aco Kostovski̇ , Nikolina Zdraveska , Stojka Fusti̇k , Sonja Bojadzi̇eva %T Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis %D 2012 %J Journal of Pediatric Sciences %P -1309-1247 %V 4 %N 3 %R %U
ISNAD Kostovski̇, Aco , Zdraveska, Nikolina , Fusti̇k, Stojka , Bojadzi̇eva, Sonja . "Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis". Journal of Pediatric Sciences 4 / 3 (Ağustos 2012): 1-5 .
AMA Kostovski̇ A , Zdraveska N , Fusti̇k S , Bojadzi̇eva S . Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis. Journal of Pediatric Sciences. 2012; 4(3): 1-5.
Vancouver Kostovski̇ A , Zdraveska N , Fusti̇k S , Bojadzi̇eva S . Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis. Journal of Pediatric Sciences. 2012; 4(3): 1-5.
IEEE A. Kostovski̇ , N. Zdraveska , S. Fusti̇k ve S. Bojadzi̇eva , "Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis", Journal of Pediatric Sciences, c. 4, sayı. 3, ss. 1-5, Ağu. 2012, doi:10.17334/jps.60821

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