Abstract:
Cystic Fibrosis is the most common and life shortening disease in Caucasians, and it is found
commonly in Europe, Australia and United States of America. It is an autosomal recessive monogenetic
disorder that affects several system, which is caused by mutations in the CFTR (Cystic Fibrosis
Transmembrane Conductor Regulator) gene. This gene encodes for the transmembrane conductance
regulator protein which responsible for the conductance of chloride ions across epithelial cells in
different organs. This affects the transport of salt and water in different organs, which results in thick
secretions.
Aim of the study: To study the genetic component and mutation of cystic fibrosis in different
races especially in India and Moldova, to understand the pathogenesis of the genetic material that causes
cystic fibrosis.
Material and methods. Analysis of latest articles and databases concerning Cystic fibrosis in
both populations.
Conclusion. 1 in 2000 is the prevalence of Cystic fibrosis patient in Moldova whereas 1 in 40000
to 100000 is the prevalence in India.Recent statistics suggest that 1 in 25000 expatriates of India in
United Kingdom and United States of America have Cystic fibrosis. However, the exact number of Cystic Fibrosis patients in India are unknown compared to Moldova due to the lack of studies conducted
in the Indian population and also non availability of screening or investigation methods. More than 1000
mutations have been identified in CFTR gene in different ways.ΔF508, which means deletion of
phenylalanine at the 508 positon, is the most common mutation found. The most frequent mutations of
the CFTR gene in Moldavian populations are ΔF508, G542X & W1282X, and in India ΔF508, -219insG
& S169G.
Better understanding and screening of the population have increased the life expectancy of the
cystic fibrosis patients. New screening methods need to be implemented into the health care systems as
well as holding seminars for the health care professionals to improve the diagnosis and patient support.
Early diagnosis will improve the life of patient and reduce mortality.
Description:
Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, Republic of Moldova, The 6th International Medical Congress for Students and Young Doctors, May 12-14, 2016