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.