Patients with RIFTD syndrome cystic fibrosis-like disorder: a report of two sibling cases.

Abstract

Cystic fibrosis (CF)-like disorders, which present with overlapping clinical features of CF but with distinct genetic causes, are often challenging to diagnose. Recent studies have identified AGR2 mutations as a novel cause of an autosomal recessive disorder resembling CF which is known as RIFTD syndrome (recurrent respiratory infection, failure to thrive with or without diarrhea). We reviewed the clinical, genetic, and imaging findings of two sibling patients presenting with a CF-like phenotype. Sweat chloride testing, chest radiography, and genetic sequencing for AGR2 mutations were performed. We assessed treatment responses and clinical outcomes over a one-year period. The purpose of this report is to describe two siblings of AGR2-related disease to broaden the clinical understanding of this condition and highlight the importance of genetic testing for proper diagnosis.