Advances in Diagnosis and Management of Cystic Fibrosis
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: closed (29 February 2024) | Viewed by 4430
Special Issue Editor
Special Issue Information
Dear Colleagues,
Cystic fibrosis (CF) is a common genetic disease caused by the defective production of CFTR protein. Understanding the basic genetic defect of CF enabled new treatment modalities including CFTR modulators in the developed countries. In the developing world, CF remains a problematic situation especially with regard to the diagnosis of the disease. Limited access to sweat testing in many parts of the world creates an inequity in the management of the disease worldwide. Genetics, which is the main part of the diagnosis, is evolving with many variants with unknown significance. In addition to this, management of CF in the centres, transition to adulthood care are other issues waiting to be resolved in many countries. The primary aims of this issue, Advances in Diagnosis and Management of Cystic Fibrosis; are to define the diagnostic difficulties, discover new diagnostic opportunities in CF, discuss the evolving genetic methods and the problems in the management of CF, as well as the transition to adulthood programs. Also, to review the recent situation in the therapeutic regimens including CFTR modulators are under the scope of this issue.
Prof. Dr. Bülent Taner Karadaǧ
Guest Editor
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Keywords
- cystic fibrosis
- diagnosis
- management
- sweat testing
- genetics
- CFTR modulators
- transition
- treatment
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