open access

Vol 88, No 6 (2020)
Case report
Published online: 2020-10-30
Submitted: 2020-05-02
Accepted: 2020-05-21
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Cystic fibrosis or not? Familial occurrence of a rare mutation in the CFTR gene

Paweł Zapolnik, Beata Zapolnik
DOI: 10.5603/ARM.a2020.0142
·
Pubmed: 33393655
·
Adv Respir Med 2020;88(6):612-614.

open access

Vol 88, No 6 (2020)
CASE REPORTS
Published online: 2020-10-30
Submitted: 2020-05-02
Accepted: 2020-05-21

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.

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.

Get Citation

Keywords

cystic fibrosis; genes; mutation

About this article
Title

Cystic fibrosis or not? Familial occurrence of a rare mutation in the CFTR gene

Journal

Advances in Respiratory Medicine

Issue

Vol 88, No 6 (2020)

Article type

Case report

Pages

612-614

Published online

2020-10-30

DOI

10.5603/ARM.a2020.0142

Pubmed

33393655

Bibliographic record

Adv Respir Med 2020;88(6):612-614.

Keywords

cystic fibrosis
genes
mutation

Authors

Paweł Zapolnik
Beata Zapolnik

References (13)
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