遗传性胆碱酯酶缺乏症：一个具有两种罕见基因型的家族报告。

Hereditary cholinesterase deficiency: a report of a family with two rare genotypes.

作者信息

Baker E L, Smrek A, Kimbrough R D, Hudgins M, Landrigan P J, Liddle J A

出版信息

Clin Genet. 1977 Sep;12(3):134-8. doi: 10.1111/j.1399-0004.1977.tb00916.x.

DOI:10.1111/j.1399-0004.1977.tb00916.x

Abstract

Cholinesterase deficiency was detected in a young girl following an episode of postanesthesia apnea. Subsequently, plasma and serum cholinesterase levels and dibucaine numbers were determined on blood samples from 56 members of her extended family. Including the proband, three individuals were identified with severe cholinesterase deficiency and 12 were found to have mild abnormalities. The occurrence of two genetic variants regulating cholinesterase production, the "silent" gene and the atypical enzyme, is postulated to account for the unusual pattern of inheritance in this family. Screening family members of confirmed cases is essential to prevent the potentially fatal consequences of this hereditary disorder.

摘要

一名年轻女孩在麻醉后出现呼吸暂停发作后，被检测出胆碱酯酶缺乏。随后，对其大家庭的56名成员的血样进行了血浆和血清胆碱酯酶水平及地布卡因值测定。包括先证者在内，有3人被确定为严重胆碱酯酶缺乏，12人被发现有轻度异常。据推测，两种调节胆碱酯酶产生的基因变异，即“沉默”基因和非典型酶，可解释该家族中这种不寻常的遗传模式。对确诊病例的家庭成员进行筛查对于预防这种遗传性疾病的潜在致命后果至关重要。