
pmid: 3437188
膠原病での家族内発症の報告は散見されるが,混合性結合組織病(mixed connective tissue disease, MCTD)での家族内発症は極めてまれである.我々は, MCTDを発症した姉妹例を経験した.妹は,レイノー現象,手指硬化症,多関節炎,拘束性換気障害,白血球減少,血小板減少, CK値上昇,抗RNP抗体陽性であった.姉は,レイノー現象,手指硬化症,肺線維症,筋力低下,白血球減少,血小板減少, CK値上昇,抗RNP抗体陽性であった.姉妹ともに厚生省MCTD研究班の診断の手引きに合致しており, MCTDと診断し得た.姉妹のHLA抗原の分析では,共通してAw24, B7, Cw7, DR1抗原を有していた.かかる症例は,本症の発症に遺伝学的背景因子が存在する可能性を示唆するものと考えられた.
Adult, HLA Antigens, Humans, Female, Raynaud Disease, Mixed Connective Tissue Disease
Adult, HLA Antigens, Humans, Female, Raynaud Disease, Mixed Connective Tissue Disease
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