INTRODUCTION:
Cystic fibrosis is a recessive genetic disease caused by mutation in the two alleles of the gene CFTR. It can be diagnosed by classic symptoms and laboratory tests, such as sweat testing or genetic testing for the identification of CFTR mutations [1]. When performing the genetic test, the most frequent mutations for certain ethnic groups are investigated [2]. There is a large spectrum of abnormalities in the CFTR gene that leads to a partial function of the chloride canal and, thereby, an uncommon presentation of the disease. These presentations do not fully meet the diagnostic criteria for cystic fibrosis and are therefore classified as ”CFTR-related diseases” [3]. This article aims to report a case of a patient with a single gene mutation related to cystic fibrosis, with an unusual clinical presentation among CFTR related diseases.