内容紹介
Summary
A 27-year-old man was diagnosed with dyskeratosis congenita from DKC1 gene mutation at 9 years of age and had been followed-up regularly. An upper gastrointestinal endoscopy performed for vomiting revealed gastric varices. Further examination resulted in a diagnosis of Stage Ⅳ rectal cancer with portal hypertension, splenomegaly, liver, and lung metastasis and he was referred to our department. A laparoscopic splenectomy was performed, followed by a laparoscopic low anterior resection for rectal cancer. Subsequently, resection of the pulmonary and liver metastasis was performed, resulting in macroscopic radical resection. However, 3 months after the hepatectomy, unresectable multiple lung metastasis was detected and he received 5 courses of chemotherapy with cetuximab. A grade 3 skin rash was observed and chemotherapy was discontinued. After 5 courses, he had pneumothorax and received drainage. He had sudden respiratory failure 2 days after pleural adhesion therapy of OK-432 was performed. He was diagnosed with interstitial pneumonia induced by OK-432 and steroid pulse therapy, which resulted in his death without improvement 21 days after admission.
要旨
症例は27歳,男性。9歳時DKC1遺伝子変異から先天性角化不全症と診断され,以後経過観察中であった。嘔吐を契機に施行された上部消化管内視鏡検査で胃静脈瘤を指摘され,その後門脈圧亢進症,脾腫とともに肝・肺転移を伴うStage Ⅳ直腸癌と診断され,当科紹介となった。腹腔鏡下脾臓摘出術,シャント結紮術を行った後に腹腔鏡下低位前方切除術,続いて肺・肝転移切除を行い肉眼的根治切除となった。しかし3か月後に切除不能多発残肺転移を認め,化学療法を導入した。cetuximabの投与を開始したが,Grade 3の痤瘡様皮疹を認め休薬した。その直後に緊張性気胸を認めたため入院の上ドレナージを施行したが,改善がないため胸膜癒着療法を施行した。2日後に突然急激な呼吸不全を呈し,薬剤性間質性肺炎と診断した。各種治療に反応せず,入院21日目に死亡した。
目次
A 27-year-old man was diagnosed with dyskeratosis congenita from DKC1 gene mutation at 9 years of age and had been followed-up regularly. An upper gastrointestinal endoscopy performed for vomiting revealed gastric varices. Further examination resulted in a diagnosis of Stage Ⅳ rectal cancer with portal hypertension, splenomegaly, liver, and lung metastasis and he was referred to our department. A laparoscopic splenectomy was performed, followed by a laparoscopic low anterior resection for rectal cancer. Subsequently, resection of the pulmonary and liver metastasis was performed, resulting in macroscopic radical resection. However, 3 months after the hepatectomy, unresectable multiple lung metastasis was detected and he received 5 courses of chemotherapy with cetuximab. A grade 3 skin rash was observed and chemotherapy was discontinued. After 5 courses, he had pneumothorax and received drainage. He had sudden respiratory failure 2 days after pleural adhesion therapy of OK-432 was performed. He was diagnosed with interstitial pneumonia induced by OK-432 and steroid pulse therapy, which resulted in his death without improvement 21 days after admission.
要旨
症例は27歳,男性。9歳時DKC1遺伝子変異から先天性角化不全症と診断され,以後経過観察中であった。嘔吐を契機に施行された上部消化管内視鏡検査で胃静脈瘤を指摘され,その後門脈圧亢進症,脾腫とともに肝・肺転移を伴うStage Ⅳ直腸癌と診断され,当科紹介となった。腹腔鏡下脾臓摘出術,シャント結紮術を行った後に腹腔鏡下低位前方切除術,続いて肺・肝転移切除を行い肉眼的根治切除となった。しかし3か月後に切除不能多発残肺転移を認め,化学療法を導入した。cetuximabの投与を開始したが,Grade 3の痤瘡様皮疹を認め休薬した。その直後に緊張性気胸を認めたため入院の上ドレナージを施行したが,改善がないため胸膜癒着療法を施行した。2日後に突然急激な呼吸不全を呈し,薬剤性間質性肺炎と診断した。各種治療に反応せず,入院21日目に死亡した。