Kiểu gen và kiểu hình của tăng Cholesterol máu tiên phát ở trẻ em

Abstract

Monogenic hypercholesterolemia is a group of single gene defects with Mendelian transmission characterized by elevated low-density lipoprotein-cholesterol (LDL-C) levels and very high risk of premature atherosclerotic disease. Our purpose is to identify mutations in genes related with monogenic hypercholesterolemia, and to describe clinical and biochemical phenotype of children with hypercholesterolemia. This is a case series study including mutation analysis using next generation sequencing, description of clinical symptoms and biochemistry investigations. The clinical phenotype of 10 patients from 8 unrelated families (age at presentation was 5.9±6.2  years old; male/female was 4/6) included xanthoma (6 cases) and asymptomatics (4 cases).  4/10 cases had family history with hypercholesterolemia. Serum total cholesterol levels was 9,8 ± 4,6 mmo/l, serum LDL- C levels was 7 ± 3,1  mmol/l, serum HDL-C level was 1,3 ± 0,2 mmol/l, serum triglyceride levels was 1,7 ± 0,7  mmol/l. 7 cases had heterozygous mutations in LDLR gene, 3 cases had compound heterozygous ones in ABCG5 gene. Primary hypercholesterolemia had poor clinical manifestations, and mutation analysis helps genetic counseling and complication prevention.