Case report of compound CFTR variants in Korean siblings with cystic fibrosis: importance of differentiating cystic fibrosis from inflammatory bowel disease.

ABSTRACT: The prevalence of cystic fibrosis (CF) is considerably lower in Asian populations compared with that of Caucasians. Cases of CF are typically due to mutations in the CF transmembrane conductance regulator gene with autosomal recessive inheritance. Here, we report two cases of newly diagnosed CF in Korea-a 13-year-old boy and his 5-year-old brother. The older brother was admitted to our hospital for evaluation and treatment of recurrent abdominal pain, frequent diarrhea, and failure to thrive. Fecal calprotectin (FC) was elevated, and when combining this with his clinical presentation, inflammatory bowel disease (IBD) or eosinophilic gastroenteritis (EoGE) was the first impression of his disease. Several ulcerative lesions were observed on ileocolonoscopy. However, incidental findings of su

SUBMITTER: Park H 

PROVIDER: S-EPMC8649608 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature