Abstract
Cystic fibrosis is a monogenic disease caused by a mutation in the CFTR gene. The classic presentation of the disease includes chronic bronchopulmonary symptoms. However, abnormalities in this gene may also be manifested by other phenotypes, so-called CFTR-related disorders. This is a group of entities including disseminated bronchiectasis, congenital bilateral absence of vas deferens, and chronic pancreatitis. In this article, we present a family with a rare F1052V mutation and a polymorphic variant of IVS-5T+11TG. No classical form of the disease was observed in any of the persons affected by the above changes. Results of special investigations are also not typical, which hinders unequivocal diagnosis.
Highlights
Cystic fibrosis (CF) is the most common monogenic disease with autosomal recessive inheritance in the Caucasian population
We present the case of a family with a rare mutation in the CFTR gene
The p.F1052V change is a rare mutation found in cystic fibrosis
Summary
Cystic fibrosis (CF) is the most common monogenic disease with autosomal recessive inheritance in the Caucasian population. Cystic fibrosis occurs with a frequency of about 1:4000– 5000, asymptomatic carriers represent 2–5% of the white people’s population. It is caused by a mutation in the CFTR gene encoding a cAMP-dependent chloride channel. The CFTR protein is a regulator of ion and water transport in epithelia. The CFTR gene is associated with other phenotypes that do not meet the cystic fibrosis diagnostic criteria. These are so-called CFTR-related disorders, which include, among others, disseminated bronchiectasis, congenital bilateral absence of vas deferens (CBAVD), or chronic pancreatitis [1, 4]. The aim of the study is to draw attention to diagnostic difficulties that a clinician may meet in such a situation
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