Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in mexicans

被引：0
|
作者：
Martinez, Lizbeth [2 ]
Ordonez Sanchez, Maria Luisa [3 ]
Letona, Rosario [1 ]
Olvera Sumano, Veronica [2 ]
Miguel Guerra, Mariano [2 ]
Teresa Tusie-Luna, Maria [3 ]
Alberto Aguilar-Salinas, Carlos [1 ]
机构：
[1] Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Dept Endocrinol & Metab, Mexico City 14000, DF, Mexico
[2] Hosp Reg Alta Especialidad Oaxaca, Mexico City, DF, Mexico
[3] Univ Nacl Autonoma Mexico, Inst Invest Biomed, Inst Nacl Ciencias Med & Nutr, Unidad Biol Mol & Med Genom, Mexico City 04510, DF, Mexico
来源：
GACETA MEDICA DE MEXICO | 2011年 / 147卷 / 05期
关键词：
Familial hypercholesterolemia; Mexico; LDL receptor; Homozygous familial hypercholesterolemia; Genetically isolated populations; DISEASE;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We present the case of an 18-years old women with homozygous familial hypercholesterolemia in which a LDL receptor mutation (c2271delT) was found. This mutation has been informed only in Mexicans. The patient was born in Oaxaca, Mexico. She has atypical location of tendinous and tuberous xanthomata, coronary atherosclerosis and multiple valve involvement. The response to ezetimibe/high dose statin therapy was poor This case is an example of the occurrence of homozygous forms of familial hypercholesterolemia in genetically isolated populations of Mexico.
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页码：394 / 398
页数：5
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