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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 case of homozygous familial hypercholesterolemia and its pedigree analysis. Methods According to patients and their families clinical symptoms and blood lipid test data. Results The proband was 6 years old at the time of first visit, with a serum cholesterol concentration of 21.3 mmol / L, xanthoma at birth, multiple xanthoma, and corneal and aortic stenosis with multiple angina pectoris. Myocardial infarction occurs for the first time at the age of 8 years and suddenly dies after coronary bypass surgery at the age of 10 years. Can be diagnosed as homozygous familial hypercholesterolemia. According to the blood lipids and clinical manifestations, 11 cases of heterozygous familial hypercholesterolemia were examined. The pedigree of the pedigree was found to be consistent with autosomal dominant inheritance. Conclusion A familial hypercholesterolemic lineage was confirmed.