Birt-Hogg-Dubé症候群の家族歴を持つ患者における虫垂憩室症の1例の報告

Appendiceal diverticulosis in a patient with family history of Birt-Hogg-Dubé syndrome--a case report.

• Alan Alexander
• Kyle Hunter
• Stephen Passerini
• Roopa Bhat
• Ambarish P Bhat

抄録

Birt-Hogg-Dubé 症候群（BHD）は、まれな常染色体優性障害であり、患者は皮膚腫瘍、自然気胸を再発する肺嚢胞、およびハイブリッド癌細胞性腎細胞癌や発色性腎細胞癌を含むさまざまな腎新生物に罹患しやすい。大腸がんやその他の大腸の異常の発生と遺伝的な関連性については、多くの議論がなされてきた。BHDと腸腺腫性ポリポーシスおよびシグモイド憩室症との関連は文献に記載されているが、BHD患者における虫垂憩室症の先行報告はない。ここでは、BHDの家族歴が知られている40歳の女性患者を紹介する。この患者は、日常的な腎および肺の異常のスクリーニングの際に、コンピュータ断層撮影で虫垂と肺出血の憩室症が認められた。

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder that predisposes patients to cutaneous tumors, pulmonary cysts with recurrent spontaneous pneumothoraces, and a variety of renal neoplasms including hybrid oncocytic and chromophobe renal cell carcinomas. There has been much debate regarding the genetic link with the occurrence of colorectal cancer and other colonic anomalies. Associations between BHD and intestinal adenomatous polyposis and sigmoid diverticulosis have been described in the literature, but there have been no prior reports of appendiceal diverticulosis in patients with BHD. Here, we present a 40-year-old female patient with a known family history of BHD, who was found to have diverticulosis of the appendix and pulmonary blebs on computed tomography upon routine screening for renal and pulmonary abnormalities, suggesting additional focus be given to the gastrointestinal tract (including the appendix) at the time of CT assessment.

© 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington.