Folliculin 유전자 변이로 진단된 Birt-Hogg-Dubé 증후군 1예
A Case of Birt-Hogg-Dubé Syndrome Diagnosed by a Folliculin Gene Mutation
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초록
저자 등은 폐렴으로 치료받은 65세 여자 환자에서 흡연력이 전혀 없음에도 자발성 기흉 기왕력과 양측성 다발성 폐낭종 소견이 관찰되어 BHD 증후군을 의심하였고 folliculin 유전자 변이 검사를 통하여 이를 확인하였다. 특징적인 피부 병변 없이도 BHD 증후군의 발생 가능성이 있으므로 폐질환이 임상적으로 이 질환에 합당한 경우에는 folliculin 유전자 변이 검사를 고려해 보아야 할 것으로 생각한다.
Abstract
Birt-Hogg-Dubé (BHD) syndrome is a rare, autosomal-dominant disorder that is caused by germ-line mutations in the folliculin gene. Clinically, BHD syndrome is characterized by cutaneous follicle tumors, pulmonary cysts, spontaneous pneumothorax, and an increased risk of renal cancer. A 65-year-old woman was admitted to Seoul St. Mary's Hospital to treat pneumonia, and we found that she had experienced recurrent spontaneous pneumothorax and had bilateral multiple pulmonary cysts with no history of smoking. Mutation analysis of the folliculin gene identified a novel mutation in exon 9 (c.997_998delTC; p.Ser333ArgfsX56). Except for the lung manifestation, no other features of BHD syndrome were detected in this case. Here, we report a case of BHD syndrome that manifested only as lung disease with a novel mutation. (Korean J Med 2011;81:102-106)
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