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一例纯合子型家族性高胆固醇血症及其系谱分析 |
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刘军 胡维诚 刘玉梅 李莉 陈融
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21.3 mmol/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22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。
关键词：高胆固醇血症，家族性； 系谱
A homozygous patient of familial hypercholesterolemia and their pedigree analysis
LIU Jun HU Wei-cheng LIU Yumei et al
（Department of medicine,The First Hospital of Tianmen City,Hubei 431700）
Abstract：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 21.3 mmol/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.
Key words：Hypercholesterolemia, familial; Pedigree▲
家族性高胆固醇血症(FH)为一严重的常染色体显性遗传性疾病〔1〕。以低密度脂蛋白(LDL)浓度明显增高为本症的特点。黄色瘤和早发性角膜环(corneal arcus)为本病的常见体征〔2〕。FH纯合子患者
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