[家族性高胆固醇血症。临床诊断与治疗方面]
[Familial hypercholesteremia. Clinico-diagnostic and therapeutic aspects].
作者信息
Cassi E, Massarotti G, Bernieri A, Cova L, Colombo A, Beretta R, Pagani C
出版信息
Minerva Med. 1978 Oct 17;69(49):3399-406.
PMID:724149
Abstract
A case of familial hypercholesterolaemia detected in a homozygous subject following the investigation of two large families with a high incidence of the disease, is presented. The genetic background of this form is discussed. Reference is made to the difficulty of identifying heterozygotes and homozygotes and the mode of transmission followed in the two families. The results of 45 months' treatment with cholestiramine and clofibrate and a dietary regimen are described.
摘要
本文报告了一例纯合子家族性高胆固醇血症病例，该病例是在对两个该病高发的大家庭进行调查后发现的。文中讨论了这种类型的遗传背景。提及了识别杂合子和纯合子的困难以及两个家族中的遗传方式。描述了用消胆胺和氯贝丁酯进行45个月治疗以及饮食疗法的结果。
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