Familial Sarcoidosis: Two Cases in the Same Family
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概要
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We reported two patients with sarcoidosis in the same family. The patients were a seventy five-year old female (mother), and a fifty five-year old female (daughter). Bilateral hilar lymphadenopathy in the annual chest x-ray examination was related to the diagnosis. However they had insidious symptoms which were exertional dyspnea of the mother and the misty vision of the daughter. The mother showed mild hypoxemia with pulmonary peripheral hypoperfusion. The daughter showed the persistent facial plaque and bilateral uveitis. Their serum angiotensin converting enzyme (ACE) levels were normal, and their genotype of ACE was II. Common types of their HLA antigens were A31, B52 and DR2. Biopsy specimens of plural organs from both patients revealed epithelioid cell granuloma without necrosis. They were estimated to have chronic active sarcoidosis. Although the serum ACE levels may remain normal, we have to observe the activity of sarcoidosis carefully in the familial cases with the ACE genotype II.
- 日本サルコイドーシス/肉芽腫性疾患学会の論文
日本サルコイドーシス/肉芽腫性疾患学会 | 論文
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