The importance of the M470V polymorphism
Yükleniyor...
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Objective: Several hundreds of cystic fibrosis transmembrane conductance regulator (CFTR) variants have been reported, however it is not known whether which one of them was causing the disease of cystic fibrosis (CF) or not. Information about CFTR genes carrying the M470 or the V470 allele are interesting. In this study, we aimed to investigate the clinical importance of M470V mutation in Antiochia region. Methods: A case-control study consisted of 145 children from whom CF gene study was requested because of recurrent respiratory tract infections, growth failure, chronic diarrhea and constipation. The parameters of patients with positive mutation were compared with negative ones as for gender, age, height, weight, annual number of upper and lower respiratory tract infections, parental consanguinity, sibling death, clinical and laboratory parametres. Results: In 63 of 145 patients (43.4%), heterozygous mutation, in 16 (11%) of them homozygous mutation was detected. All of the patients with mutation group had M470V mutation. The sweat test results of all patients were within normal limits. Mean age of those patients were 41.21 +/- 39.8 (min: 6 max: 192) months and 30 (38%) of them were girls. Thirty percent of the patients with mutation (n=17.7) had a familial history of cystic fibrosis, 2 a history of sibling death. In the mutation group, only annual number of infections, skin dryness, loss of weight, level of IgG and IgM were significantly higher (p<0.05). Conclusion: It was concluded that in M470V positive cases, the disease may cause clinical symptoms without affecting sweat test results, with less gastrointestinal but more respiratory symptoms, causing a more prominent loss of weight.
Açıklama
Anahtar Kelimeler
Child, cystic fibrosis, M470V
Kaynak
Izmir Dr Behcet Uz Cocuk Hastanesi Dergisi
WoS Q DeÄŸeri
N/A
Scopus Q DeÄŸeri
Cilt
7
Sayı
3
