一例纯合子型家族性高胆固醇血症及其系谱分析  

A homozygous patientoffamilial hypercholesterolemiaand their pedigree analysis

作　　者：刘军 胡维诚[2] 刘玉梅[2] 李莉[2] 陈融[2] 

机构地区：[1]湖北省天门市第一医院内二科,431700 [2]山东医科大学病理生理学教研室

出　　处：《中华内分泌代谢杂志》2000年第1期15-17,共3页Chinese Journal of Endocrinology and Metabolism

基　　金：山东省自然科学基金!(Y98C110 40 )

摘　　要：目的　报道 1例纯合子型家族性高胆固醇血症及其系谱分析结果。方法　根据患者及其家系的临床症状和血脂检查资料。结果　先证者男性初诊时为 6岁 ,血清胆固醇浓度为 2 1.3mmol/L ,出生时即有黄色瘤 ,之后多处出现黄色瘤 ,并有角膜环和主动脉瓣狭窄 ,多次发生心绞痛。 8岁时首次发生心肌梗死 ,10岁时在冠脉搭桥术后猝死。可确诊为纯合子型家族性高胆固醇血症。检查患儿 3代 2 2人 ,根据血脂和临床表现确诊 11例杂合子型家族性高胆固醇血症患者 ,系谱分析该家系遗传方式符合常染色体显性遗传规律。结论　证实 1个家族性高胆固醇血症系谱。Objective To report a homozygous patient of familial hypercholesterolaemia (FH) and the results of pedigree analysis. Methods According to the clinical signs and serum lipid analysis of the patient and members of their family.Results The proband is a 6 year old boy. A xanthoma was found at the buttock when the boy was born. Since then more xanthomas at many parts of body and corneal arcus were found. Auscultatory and ultrasonic examinations found aortic stenosis. He experienced several episodes of acute angina pectoris, eventually sudden death happened after bypass operation of coronary artery when he was 10 year old. His serum total cholesterol (TC) is 21.3mmol/L, the boy can be diagnosed as a homozygote of FH. Then 22 members of three generations in this family were investigated. 11 heterozygotes of FH were found accoring to the blood lipids and clinical manifestations. The genetic pattern is confirmed to be an autosomal dominant inheritance trait by pedigree analysis. Conclusion A pedigree of FH was confirmed.

关 键 词：高胆固醇血症 家族性 系谱 纯合子型 

分 类 号：R589.2[医药卫生—内分泌]