Ullrich K, Gröbe H, Pfefferkorn J, Müller K M, von Bassewitz D B
Monatsschr Kinderheilkd. 1983 Oct;131(10):740-2.
A 10.5 year old girl with liver cirrhosis due to AAT-deficiency (Pi type ZZ) developed cyanosis and clubbing of finger and toes. Clinical aspect of a cyanotic heart disease appeared with 10 years, 7 years after diagnosis of cirrhosis. By contrast echocardiography existence of intrapulmonary arterio-venous shunts was demonstrated. When determined during the first year of life, serum-alpha-1-globulin-fraction of the patient was found to be normal. The result indicates, that even in severe AAT-deficiency of Pi type ZZ direct determination of AAT is necessary for diagnosis of the disease.
一名因α1抗胰蛋白酶缺乏症（Pi型ZZ）导致肝硬化的10.5岁女孩出现了手指和脚趾发绀及杵状指。在诊断肝硬化7年后，10岁时出现了紫绀型心脏病的临床症状。对比超声心动图显示存在肺内动静脉分流。在出生后第一年检测时，发现该患者的血清α1球蛋白部分正常。结果表明，即使是Pi型ZZ的严重α1抗胰蛋白酶缺乏症，直接测定α1抗胰蛋白酶对于该疾病的诊断也是必要的。
