Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
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DOI：
10.1007/s10545-010-9126-2
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发表时间：
2010-08-01
影响因子：
4.2
通讯作者：
Ho, Low-Tone
中科院分区：
文献类型：
--
作者：
Niu, Dau-Ming;Chong, Kah-Wai;Ho, Low-Tone
临床观察和治疗的幼儿谷甾醇血症很少有报道。我们报告了来自四个不同家族的五名中国儿童的临床、生化和分子遗传学观察结果，这些儿童患有谷甾醇血症，我们在ABCG 5基因中发现了两个新的突变（Y329 X，G269 R）和三个已知的突变（R446 X，N437 K，R389 H）。在50%的等位基因中发现了R389 H突变。这5例患者中有3例接受考来烯胺治疗，反应非常好。然而，所有患者都因依从性差而停止了这种治疗。最后，所有患者均接受依折麦布治疗，血清总胆固醇水平令人满意，尽管他们的植物甾醇水平仍高于正常水平。另一个值得注意的发现是，一名女婴在7个月大时的血清胆固醇水平为654 mg/dl，尽管自出生以来一直母乳喂养（含极少量植物甾醇）并接受4个月的依折麦布给药。尽管在此期间她对依折麦布没有反应，但在2岁时再次开始治疗时，她确实显示出改善。另一名23个月大的女性患者可能对依折麦布治疗的反应也比老年患者慢。
The clinical observation and treatment of young children with sitosterolemia has rarely been reported. We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene. The R389H mutation was found in 50% of alleles. Three of these five patients received cholestyramine therapy with a very good response. However, all patients discontinued this therapy because of poor compliance. Finally, all patients were on ezetimibe therapy and had satisfactory total serum cholesterol levels, though their plant sterol levels were still higher than normal. Another noteworthy finding is that a female infant had a serum cholesterol level of 654 mg/dl at 7 months of age, despite being breast fed (with very tiny amounts of plant sterols) since birth and undergoing 4 months of ezetimibe administration. Although she failed to respond to ezetimibe during this period, she did show improvement when the therapy was started again at 2 years of age. It is possible that another 23-month-old female patient also responded more slowly to ezetimibe treatment than older patients.