“具有临床症状的持续时间变异型”具有α1-抗胰蛋白酶基因型ZZ。
'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.
作者信息
Weitkamp L R, Sayre J W, Schwartz R H, Doherty R, Khera S A
出版信息
J Med Genet. 1976 Feb;13(1):46-8. doi: 10.1136/jmg.13.1.46.
A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitrypsin have been previously reported to have liver disease, the latter genotype is the more probable explanation for the patients' clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals.
一名患有新生儿黄疸和肝硬化的患者，此前报道其为1-磷酸半乳糖尿苷转移酶杜拉特变异体的纯合子，其α1抗胰蛋白酶基因型为ZZ型。该患者的一个姐妹，同样是ZZ基因型，肝病症状较轻，是杜拉特变异体的杂合子。由于此前已报道许多α1抗胰蛋白酶ZZ基因型的患者患有肝病，后一种基因型更有可能解释这些患者的临床状况。然而，一个问题被提了出来，即杜拉特变异体是否可能与ZZ个体的肝病发展有特定关联。
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