Detection of CFTR Genotype and Evaluation of Clinical Parameters in Siblings
As a result of DNA sequencing, the CFTR genotype of siblings were identified as follows: Family 1, F1-P1, F1-P2, F508del/G85E (Class II); Family 2, F2-P1, F2-P2, F508del/F508del (Class II); Family 3, F3-P1, F3-P2, F3-P3, I1234V/I1234V (Class IV). Siblings in family 1 were evaluated for pulmonary findings, hepatic involvement and other comorbid conditions. 16-year-old F1-P2 had CFRD and severe hepatic involvement with cirrhosis and waiting for liver transplantation but 12-year-old F1-P1 had mild hepatic involvement and was not diagnosed with CFRD during his follow-up. For this reason, F1-P2 was found to have severe phenotype and F1-P1 to have mild phenotype. In family 2, siblings were evaluated for pulmonary findings and hepatic involvement. Younger sibling F2-P2 had severe hepatic involvement with chronic liver disease, recurrent lung infections and severe pulmonary disease compared with F2-P1. Therefore, F2-P2 was evaluated as severe and F2-P1 as mild phenotype. Siblings in family 3 were evaluated for recurrent lung infections, pulmonary function tests and severity of pulmonary disease. According to pulmonary findings F3-P1 was evaluated to be mild, F3-P2 intermediate and F3-P3 who died due to respiratory insufficiency had severe phenotype.