Pintacuda S, Di Blasi S, Morici G, Amato S
Minerva Med. 1981 Jun 30;72(26):1697-701.
The purpose of this study was to analyze the relation between association of alpha 1-antitrypsin (AAT) deficiency (an inborn error of metabolism) and familial polycystic disease of the kidney. Emphasis is laid on coexistence of two the pathological fitness in some members of two family tree. Based on the presented findings it seems reasonable to conclude that AAT-deficiency may be correlated to the pathogenesis of polycystic kidney.
本研究的目的是分析α1-抗胰蛋白酶（AAT）缺乏症（一种先天性代谢缺陷）与家族性多囊肾病之间的关系。重点在于两个家族谱系中部分成员存在两种病理状态共存的情况。基于所呈现的研究结果，得出AAT缺乏症可能与多囊肾的发病机制相关这一结论似乎是合理的。
