Clark P, Breit S N, Dawkins R L, Penny R
Am J Med Genet. 1982 Sep;13(1):57-62. doi: 10.1002/ajmg.1320130110.
Alpha 1 antitrypsin phenotypes and serum levels are presented for a family in which two brothers have Weber Christian disease and alpha 1 antitrypsin (PI) Z phenotypes. Clinical histories are described for these two men. A younger brother has the PI Z phenotype but does not have the disease, indicating that additional genetic and/or environmental factors contribute to the pathogenesis of Weber Christian disease. However, the two cases described provide additional evidence for a relationship between alpha 1 antitrypsin deficiency and the development of symptoms.
本文呈现了一个家族的α1抗胰蛋白酶表型和血清水平，该家族中有两个兄弟患有韦伯-克里斯蒂安病且具有α1抗胰蛋白酶（PI）Z表型。文中描述了这两名男性的临床病史。一名弟弟具有PI Z表型但未患该病，这表明其他遗传和/或环境因素对韦伯-克里斯蒂安病的发病机制有影响。然而，所描述的这两个病例为α1抗胰蛋白酶缺乏与症状发展之间的关系提供了更多证据。
