Cystic fibrosis in a female adolescent carrying c.263T>G (p.Leu88X) and c.2977G>T (p.Asp993Tyr) mutation
10.4168/aard.2020.8.3.165
- Author:
Mun Hui JEONG
1
;
Sung Su JUNG
;
Hyung Young KIM
Author Information
1. Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University School of Medicine, Yangsan, Korea
- Publication Type:CASE REPORT
- From:Allergy, Asthma & Respiratory Disease
2020;8(3):165-171
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Cystic fibrosis (CF) is a chronic progressive autosomal recessive disease and caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. CFTR gene encodes an ion channel involved in salt and water transport in multiple organs including lung, pancreas and reproductive tract. To date, more than 2,000 mutations of CFTR gene have been identified. Because the age of onset and the severity of symptoms may vary greatly, a diagnosis of CF can be challenging. Although CF is common in Caucasians, it is extremely rare in Koreans. A few cases of CF have been reported in Korean children since 1988. Here, we report a 13-year-old girl carrying c.263T>G (p.Leu88X) and c.2977G>T (p.Asp993Tyr). Furthermore, we reviewed 22 Korean cystic fibrosis cases reported in the literature.
