Cystic Fibrosis - An Open Book that must be Always UpdatedSur Genel1,2*, Floca Emanuela1, Sur M Lucia1, Sur Daniel1 and Miclos M Corina1
- *Corresponding Author:
- Sur Genel
University of Medicine and Pharmacy
IuliuHatieganu, Cluj-Napoca, Romania
E-mail: [email protected]
Received date: March 05, 2014; Accepted date:March 29, 2014; Published date: March 31, 2014
Citation: Genel S, Emanuela F, Lucia SM, Daniel S, Corina MM (2014) Cystic Fibrosis - An Open Book that must be Always Updated. J Genet Syndr Gene Ther 5:224. doi: 10.4172/2157-7412.1000224
Copyright: © 2014 Genel S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.