Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. The dysfunction of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) causes the disease by disrupting epithelial salt and water transport. Characteristic manifestations of the disease such as chronic respiratory infections, pancreatic enzyme insufficiency, and infertility are caused by the accumulation of mucus in the ducts. Nowadays nearly 2000 CFTR mutatioans are known. The most common mutation is F508del. F508del/F508del mutation is not always accompanied by severe manifestations. The clinical expression is different among patients, taking into account the mutations and another factor, among them, enviromental and modifier genes. In the case of rare mutations symptoms vary from patient to patient being influenced by environmental factors and modifier genes. We present a case with a less common combination of mutations and an atypical clinical presentation.
Cystic Fibrosis - An Open Book that must be Always Updated: Sur Genel, Floca Emanuela, Sur M Lucia, Sur Daniel and Miclos M Corina
Journal of Pulmonary & Respiratory Medicine welcomes articles related to "Cystic fibrosis"
Last date updated on April, 2023