| Autor: |
Lvya Wang, Xu Wang, Li-Yuan Sun, Long Jiang, Ya Yang, Gaojun Cai, Yu-Jie Zhou |
| Rok vydání: |
2020 |
| Předmět: |
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| Popis: |
Familial hypercholesterolemia (FH) is a severe autosomal-dominant disorder. We reported a case who firstly admitted to our institution for obvious cutaneous and tendinous xanthomas and high low-density lipoprotein cholesterol when he was 3.7 year old in 2005. DNA sequencing detected the homozygous mutation in LDLR exon9 c.1187-10G>A, a 3' splice acceptor mutation in poly-pyrimidine tract of intron 8. During the long-term follow-up, progressive aortic stenosis and coronary atherosclerosis was found, although given the lipid-lowing drugs. HoFH with c.1187-10G>A mutation in LDLR gene might lead to severe damage in cardiovascular system and unsatisfactory response to conventional lipid-lowing drugs. Other aggressive treatments should be used in HoFH patients with this mutation as early as possible. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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