Erken Dönemde Kolestaz Bulgusu ile Gelen Kistik Fibrozis Olgusu

Kistik fibrozis, beyaz ırkta yaşam süresini kısaltan kalıtımsal hastalıklar arasında en sık görülenidir. Pankreatik ekzokrin bez fonksiyonu, solunumsal fonksiyon ve birçok organı etkileyen bir hastalıktır. Bu hastalık, transmembran ileti düzenleyici (CFTR) genindeki mutasyonlar nedeniyle ortaya çıkar. Kistik fibrozis infantil dönemde kolestazın nadir bir sebebidir. Bu yazıda neonatal kolestazı olan şiddetli anemi, direkt hiperbilirubinemi, hipoalbuminemi gelişmiş olan ve kistik fibrozis tanısı konan bir infant sunulmuştur. Kolaylıkla yanlış tanı alabilen bu durum, kistik fibroziste oldukça nadirdir. Erken tanı ve uygun tedavi, hastalığın komplikasyonlarını önleyebilir.

A Case of Cystic Fibrosis with Cholestasis in the Early Period of Life

Cystic fibrosis is the most common life shortening disease among inherited diseases in Caucasians. It is a disease that affects pancreatic exocrine gland function, respiratory function and numerous organs. This disorder is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Cystic fibrosis is the rare cause of cholestasis in infantile period. In this report we describe an infant with cholestasis, developed severe anemia, direct hyperbilirubinemia, hypoalbuminemia diagnosed as cystic fibrosis. This condition is quite rare in cystic fibrosis, which could be misdiagnosed easily. Early diagnosis and appropriate treatment could prevent further complications of the disease.

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