Clark P, Chong A Y
Institute of Clinical Pathology and Medical Research, Westmead Hospital, N.S.W., Australia.
Am J Med Genet. 1993 Mar 15;45(6):674-6. doi: 10.1002/ajmg.1320450603.
We present a consanguinous couple whose three of four children are homozygous for a rare slow alpha 1 antitrypsin allele PIW. All three children had abnormal liver function in infancy and two died in infancy of liver disease. The eldest child and both parents were heterozygous for the PIW allele and were unaffected. Therefore, although serum levels are not markedly reduced, homozygotes appear to be at increased risk of developing liver disease.
我们报告一对近亲夫妇，他们的四个孩子中有三个对一种罕见的慢α1抗胰蛋白酶等位基因PIW呈纯合状态。所有这三个孩子在婴儿期肝功能均异常，其中两个在婴儿期死于肝病。最大的孩子以及父母双方对PIW等位基因呈杂合状态，未受影响。因此，尽管血清水平没有明显降低，但纯合子患肝病的风险似乎增加。
