Nemeth A, Strandvik B
Acta Paediatr Scand. 1982 Nov;71(6):1001-5. doi: 10.1111/j.1651-2227.1982.tb09563.x.
Thirteen children with alpha 1-antitrypsin deficiency (8 PiZ and 5 PiSZ) were investigated at ages ranging from 4 to 6. None had had neonatal cholestasis. Nine, mainly the PiZ individuals, had increased serum concentration of transaminases. Liver biopsy was performed in 7 patients with increased serum levels of transaminases. One of these patients had cirrhosis and 4 had moderate to severe fibrosis. The results indicate that alpha 1-antitrypsin deficient individuals, also without neonatal cholestasis syndrome run a high risk of developing serious liver disease, already in childhood. The cirrhotic patient was the only one who had increased excretion of bile acids in urine.
对13名α1-抗胰蛋白酶缺乏症患儿（8名PiZ型和5名PiSZ型）进行了研究，年龄在4至6岁之间。无一例有新生儿胆汁淤积症。9名患儿，主要是PiZ型个体，血清转氨酶浓度升高。对7名血清转氨酶水平升高的患者进行了肝活检。其中1例患有肝硬化，4例有中度至重度纤维化。结果表明，即使没有新生儿胆汁淤积综合征，α1-抗胰蛋白酶缺乏症个体在儿童期也有患严重肝病的高风险。肝硬化患者是唯一尿中胆汁酸排泄增加的人。
