대한유전성대사질환학회지 (Journal of The Korean Society of Inherited Metabolic disease)

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
권호 표지

mTOR inhibitor와 beta-blocker 병합요법으로 성공적으로 치료된 Gorham-Stout 질환

A Case of Gorham-Stout Disease with Life-threatening Chylothorax Successfully Treated with the Combined Therapy of mTOR Inhibitor and Beta-blocker

  • 류경국 (울산대학교 의과대학 서울아산병원 어린이병원 소아청소년과) ;
  • 서고훈 (울산대학교 의과대학 서울아산병원 어린이병원 소아청소년과) ;
  • 김윤명 (울산대학교 의과대학 서울아산병원 어린이병원 소아청소년과) ;
  • 최진호 (울산대학교 의과대학 서울아산병원 어린이병원 소아청소년과) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 어린이병원 소아청소년과) ;
  • 이범희 (울산대학교 의과대학 서울아산병원 어린이병원 소아청소년과)
  • Ryu, Kyungguk (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Seo, Go Hun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Yoon-Myung (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 발행 : 2017.04.30
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초록

Gorham-Stout disease (GSD)는 골용해와 함께 혈관 및 림프조직의 비정상적인 증식으로 골조직 파괴가 유발되는 매우 드문 질환이다. 아직까지 GSD의 정확한 병인 및 기전은 밝혀지지 않았다. 악성종양이나 신경병증, 감염과의 연관성은 불명확하며, 골조직이 있는 신체 어디에서든 기형적 혈관-림프관 증식이 발생할 수 있다. GSD 중 약 20%에서 유미흉을 동반하는데, 림프관 형성이상이나 가슴 림프관 손상에 의해 이차적으로 발생한다. 급격한 호흡부전으로 이어질 수 있어 불량한 예후인자로 알려져 있지만, 질환 자체의 희귀성 때문에 현재까지 확립된 표준치료법은 없다. 본 증례는 유미흉을 동반한 생명을 위협하는 GSD 환자에서 적극적인 외과적 중재술 후 mTOR inhibitor 및 beat-blocker 복합요법을 적용하여 치료에 성공한 보고이다. 환자는 가슴림프관 결찰술 및 흉막유착술을 시행 받았으나, 일시적 증상호전 이후로 유미흉 및 호흡곤란의 재악화 반복되었다. 양측 흉막유착제거 및 폐쇄 흉강삽관술과 함께, beta-blocker와 mTOR inbititor 경구투약을 시작했다. 약물투약 1개월 후 유미흉 재발없이 호흡 안정적으로 유지되어 산소 보조치료 없이 퇴원하였다. 현재 11개월째 지속적으로 약물 투약 중으로, 약물 부작용 및 추가적인 입원치료 없이 정상적인 일상생활을 유지하고 있다. 추후 유미흉을 동반한 GSD 환자의 치료에서, 적극적인 외과적 중재술과 함께 경구 mTOR inhibitor 및 beta-blocker 복합요법을 고려해 볼 수 있겠다.

Gorham-Stout disease is a rare disorder characterized by lymphovascular proliferation and destruction of osseous matrix. The etiology of this condition remains poorly understood. Chylothorax as a consequence of lymphatic leakage in thoracic cage may cause a severe life-threatening complication, accompanying respiratory difficulty. Currently, there is no standard management for this extremely rare condition. Here we describe a patient affected by Gorham-Stout disease successfully managed by the combined treatment of mTOR inhibitor and beta-blocker. A previously healthy 11-year-old female developed dyspnea and chest pain with a massive pleural effusion. The ligation of right thoracic duct and bilateral pleurodesis temporarily decreased her pleural effusion, which was aggravated repetitively and required frequent admission and tube thoracotomies. Along with bilateral pleural adhesiolysis with thoracotomy, the combined treatment of oral beta-blocker and mTOR inhibitor was commenced. After 1 month of oral medication, her pleural effusion was not increased and she was free of respiratory difficulty on room air without chest tubes. Over eleven months of treatment, no serious adverse reaction was noted and her condition has been stable with no further admission required.

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