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

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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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Cystic fibrosis , cholestasis

Fırat Medical Journal

158

Fırat Medical Journal