• Clinical and Experimental Pediatrics
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• 제50권10호
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• pp.1018-1023
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• 2007

유전성 출혈성 모세혈관 확장증은 피부 점막 모세혈관확장증, 동정맥기형, 가족력을 3대 증상으로 하는 상염색체 우성 유전성 질환이다. 빈번한 코피가 가장 흔한 증상이며 폐, 뇌, 간 등에 동정맥기형이 동반될 수 있다. 저자들은 빈번한 코피, 폐와 뇌동정맥기형, 가족력을 가진 유전성 출혈성 모세혈관확장증 1례를 경험하고 이를 보고하는 바이다.

• Tuberculosis and Respiratory Diseases
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• 제66권4호
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• pp.314-318
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• 2009

저자들은 반복적인 코출혈이 있는 가족에서 폐동정맥기형이 있는 동생과 점막의 모세혈관확장증을 가진 형을 경험하고 희귀한 유전질환인 유전출혈모세혈관확장증의 가계도를 확인하였기에 문헌고찰과 함께 보고하는 바이다.

• Tuberculosis and Respiratory Diseases
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• 제72권1호
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• pp.50-54
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• 2012

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is a rare autosomal dominant disease characterized by heterogenous multisystemic dysplasia of the vascular tissue. Prevalence of HHT is 1 in 5,000~8,000. HHT commonly presents with recurrent epistaxis, but may have more serious consequences if visceral vascular beds are involved. Approximately 30~50% of HHT cases also present with pulmonary arteriovenous malformation (PAVM). Spontaneous hemothorax is less common, and PAVM is one of the causes leading to hemothorax. Our case involved an 18-year-old female who had suddenly developed right chest pain. The reason for chest pain was due to right spontaneous hemothorax accompanied by PAVM in the right middle lobe. The patient was additionally diagnosed with HHT upon examination of her family history, specifically through her mother's symptom that included recurrent epistaxis and mucosal telangiectasia.

• Tuberculosis and Respiratory Diseases
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• 제45권3호
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• pp.649-653
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• 1998

폐동정맥루를 보이는 환자의 40~60%에서 유전성 출혈성모세혈관확장증이 동반되어 나타나고, 유전성 출혈성 모세혈관 확장증 환자의 약 15% 정도에서 폐동정맥루가 관찰되므로 폐동정맥루 환자에서는 가족력에 대한 조사가 필요하다. 국내에서 폐동정맥루에 대한 보고는 상당수 있어 왔으나 가족력의 동반을 보고한 예는 없었다. 저자들은 객혈을 주소로 입원하여 폐동정맥루로 진단받고 wire coil spring을 이용하여 색전술을 시행한 23세 여자 환자 1예와 그 가족력을 소개하여 보고하는 바이다.

• Journal of Oral Medicine and Pain
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• 제37권3호
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• pp.135-139
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• 2012

유전성출혈모세혈관확장증은 피부 및 점막에 있는 말단 혈관이 비정상적으로 확장된 모세혈관 확장증과 내부 장기, 특히 폐, 뇌, 간 부위의 동정맥기형 발생을 특징으로 하는 상염색체 우성 유전질환이다. 이 질병을 가진 환자들은 종종 오랜 시간 동안 진단이 되지 않은 채로 지내다가 생명을 위협할 수 있는 심각한 출혈, 뇌졸중, 뇌농양과 같은 합병증이 발생하기도 한다. 따라서 이 질환의 조기 진단 및 적절한 선별검사가 매우 중요하다. 유전성출혈모세혈관확장증의 조기 진단을 통해 증상 없이 존재하다 합병증을 유발할 수 있는 폐, 간, 뇌 부위의 동정맥기형에 대한 선별 검사를 시행함으로써 이 질병에 이환된 환자와 가족에 대한 예방적 관리가 가능하다. 피부 및 점막에 발생하는 모세혈관확장증은 특징적인 소견을 보이며 치과의사에 의해 쉽게 발견되므로 치과의사는 유전성출혈모세혈관확장증에 대해 잘 알고 조기 진단에 기여할 필요가 있다. 최근 이 질환으로 진단된 증례가 있어 문헌 고찰과 함께 보고하고자 한다.

• Journal of Chest Surgery
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• 제16권3호
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• pp.362-367
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• 1983

Pulmonary arteriovenous fistula is a congenital malformation resulting from errant capillary development, with incomplete formation or disintegration of the vascular septa that normally divide the primitive connections between the venous and arterial plexuses. It generally occurs as part of the disorder known as hereditary hemorrhagic telangiectasia [Rendu-Osler-Weber disease]. The hereditary lesion is transmitted as a simple non-sex-linked dominant trait. It may be single or multiple, too small to see on plain chest films or large and easily recognized. One third of the lesions are multiple on plain chest film. The pathogenesis of its symptoms is that unoxygenated, desaturated arterial blood enters into the pulmonary venous system, directly. Recently we have experienced a case of the pulmonary arteriovenous fistula in 26 years old male soldier, which was confirmed by pulmonary angiography preoperatively. 2 thumb-tip sized, well circumscribed cystic masses filled with bright red colored blood were seen in subpleural and anterolateral portion of the right upper lobe. Right upper Iobectomy was performed due to close approximation of the fistula with pulmonary vein. Microscopically, it shows angiomatous dilatation of the abnormal vessels embedding in the parenchyma. Postoperative physiologic studies show nearly normal arterial oxygen saturation, hemoglobin and RBC count. There was good, uneventful postoperative course.

• Journal of Chest Surgery
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• 제19권2호
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• pp.335-340
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• 1986

Pulmonary arteriovenous fistula is unusually congenital malformation consisting of an abnormal connection between a pulmonary artery and vein. It may appear as an isolated anomaly or with hereditary hemorrhagic telangiectasis. In the classic form, symptoms and signs are caused by the abnormal right to left shunt. since severe clinical symptoms such as paradoxical embolism, infection, and spontaneous rupture with massive bleeding may occur, surgical treatment is often indicated. Recently we have experienced a surgical treatment of pulmonary arteriovenous fistula in 54 years old housewife. She was admitted in May 1986 with recurrent hemoptysis for 1 month. On admission, the PaO2 was 65.2 mmHg without specific findings. Pulmonary arteriovenous fistula was confirmed by preoperative pulmonary arteriography. A well circumscribed cystic mass was noted in visceral subpleural and inferior lingular segment of left upper lobe. Left upper lobectomy was performed with good results. Histologically angiomatous dilatation of abnormal vessels embedded in lung parenchyma was noted. Postoperative PaO2 was 90 mmHg. Postoperative results were good.

• Journal of Chest Surgery
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• 제28권5호
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• pp.495-498
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• 1995

Pulmonary arteriovenous fistula can be either congenital or acquired. The vast majority are congenital, and about 60% have been associated with hereditary hemorrhagic telangiectasia [Rendu-Osler-Weber disease . Secondary or acquired pulmonary arteriovenous fistula occurs with trauma, schistosomiasis, long-standing hepatic cirrhosis, metastatic carcinoma, and actinomycosis. Pulmonary hemorrhage secondary to acquired pulmonary arteriovenous fistula is a rare event associated with mortality. We have experienced 64 year-old female patient with the hemoptysis secondary to acquired pulmonary arteriovenous fistula due to the infection of pulmonary parasite. The chest PA and CT scan was showed calcified nodule to the distal portion of lateral segmental bronchus of RML. The bronchial angiogram was demonstrated slightly hypertrophied bronchial artery supplying RML bronchus and the presence of hypervascularization around the calcified nodule, rapid A-V shunting is noted by fluoroscopy. The patient was successfully treated by the right middle lobectomy.

• Journal of Chest Surgery
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• 제21권4호
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• pp.711-715
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• 1988

Pulmonary arteriovenous fistula is a congenital vascular malformation originated from abnormalities of capillary development. Fistulas may develop only in the lung or may be associated with similar abnormalities of the skin, mucous membrane, and the other organs. It may occur with hereditary hemorrhagic telangietasia[Rendu-Osier-Weber syndrome]. Recently we have experienced a case of the pulmonary arteriovenous fistula associated with Schwannoma in 20 year old male man. Tennis ball sized bright reddish mass which was composed of variable sized vascular channels filled with blood clots was located in the just subpleural portion of left lower lobe. Left lower lobectomy was done. Microscopic findings showed variable sized numerous blood vessels embedding in the parenchyma. There was a thumb-tip sized brown nodular mass which was turned out to be Schwannoma at the left 7th thoracic paravertebral area.

• Tuberculosis and Respiratory Diseases
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• 제44권4호
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• pp.914-921
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• 1997

저자들은 최근 가족력은 없지만 폐동정맥루와 간동맥혈관 조영술 및 위점막에서 관찰된 혈관기형을 동반한 Osler-Rendu-Weber 증후군 1예에서 폐동정맥루에 대해 금속코일을 이용한 색전요법을 시행하여 특별한 합병증 없이 증상의 개선을 경험하였기에 문헌 고찰과 함께 보고하는 바이다.