Genotype-Phenotype Correlation in Patients with Cystic Fibrosis // Генотип-фенотип корелация при пациенти с кистозна фиброза

Genotype-Phenotype Correlation in Patients with Cystic Fibrosis // Генотип-фенотип корелация при пациенти с кистозна фиброза Genotype-phenotype correlations in patients with cystic fibrosis have been interesting since the end of the 20th century. Still, the present thesis is the first research on the subject, including cystic fibrosis patients from Northeastern Bulgaria. Besides the affirmative nature of the study, namely, that class I and class II mutations are associated with more severe phenotypic manifestations on the part of the respiratory system, GIT and others - sweat test, CFRD, respectively, worse prognosis, emphasis was also placed on the diagnosis of cystic fibrosis based on alarming symptoms. Their recognition is of particular importance for Bulgaria due to the lack of mass nеоnatal screening, and although it is included in the program for Maternal and Child Health, in the coming years, these alarming symptoms will still be relied on for unscreened patients. The role of early recognition of cystic fibrosis is constantly growing, especially with the therapeutic options available to developed countries and 2019 Bulgaria. The proven benefits of modulating therapy are another reason for striving to confirm the diagnosis before the development of severe and irreversible changes, especially in the lungs of CF patients. Our findings on genotype-phenotype correlations in cystic fibrosis have practical implications. They not only aid in predicting the disease's progression and preventing complications but also in diagnosing the condition by identifying the underlying genotype based on alarming phenotypic manifestations.

Grantor dc:publisher

Medical University of Varna

Year dc:date

2024

Authors dc:creator

• Nikolova, Margarita
• Николова, Маргарита

• cystic fibrosis
• phenotypic manifestations
• nеоnatal screening
• Педиатрия / Paediatrics

Repository record dc:identifier

http://repository.mu-varna.bg/handle/nls/3802

OAI identifier oai:identifier

oai:repository.mu-varna.bg:nls/3802