Kasparian P, Chebat J, Feldmann G, Degott C, Seigneur F
Nouv Presse Med. 1978 Apr 8;7(14):1191-4.
Two unreleated adult males were found to be suffering from an association of pan-lobular severe emphysema and hepatomegally of unknown origin which led to the discovery of a marked deficit in alpha-1 antitrypsin (A1-AT) in relation to a PiZ phenotype. Liver biopsy revealed cirrhosis with portal fibrosis in one case and in both cases fatty infiltration with the accumulation of a glycoprotein antigenically identical to A1-AT. Electron microscopy showed this protein to be situated within the dilated lumina of the endoplasmic reticulum of the hepatocytes. A1-AT deficiency is usually associated with pulmonary involvement only in the adult and liver involvement only in the child. The association of the two remains rare--hence the interest of the two cases reported.
两名无血缘关系的成年男性被发现患有全小叶型重度肺气肿和不明原因的肝肿大，这导致发现与PiZ表型相关的α1抗胰蛋白酶（A1-AT）明显缺乏。肝活检显示，其中1例有伴有门脉纤维化的肝硬化，两例均有脂肪浸润以及与A1-AT抗原相同的糖蛋白蓄积。电子显微镜检查显示该蛋白位于肝细胞内质网的扩张管腔内。A1-AT缺乏通常仅在成人中与肺部受累有关，而在儿童中仅与肝脏受累有关。两者同时出现的情况仍然罕见，因此报道这两例病例很有意义。
