Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (FLCN) gene have been confirmed as the aetiology of BHD syndrome. A 51-year-old Indonesian female presented with recurrent spontaneous pneumothorax, multiple cysts in both lungs, and a renal cyst on magnetic resonance imaging (MRI). Blood sampling was performed to extract genomic DNA from peripheral blood leucocytes. We identified an aberrant band in the DNA fragment derived from FLCN exon 6. Moreover, direct sequencing of FLCN exon 6 by denaturing high-performance liquid chromatography (DHPLC) showed a pathogenic mutation, which caused premature termination of folliculin protein translation. This is the first reported case of BHD syndrome in an Indonesian patient confirmed by detection of a FLCN exon 6 mutation.
Keywords: Birt–Hogg–Dubé syndrome; FLCN gene mutation; multiple lung cysts.