A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia
A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia
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DOI：
10.1016/j.cca.2022.02.001
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发表时间：
2022-02-17
影响因子：
5
通讯作者：
Unal，Ekrem
中科院分区：
文献类型：
--
作者：
Gok，Veysel;Tada，Hayato;Unal，Ekrem
背景：植物类固醇血症，又称植物类固醇血症，是由于肠道对植物类固醇的吸收增加，肠道和胆道排泄类固醇减少，导致血浆中植物类固醇水平升高所致。最常见的症状包括黄瘤、动脉粥样硬化、溶血性贫血和大血小板减少，但也有延迟诊断或误诊的情况。患者和方法对1例10岁男孩进行了临床外显子组测序，我们对他进行了随访，发现有全血细胞减少的体征，并伴有大血小板减少和口红。结果在先证者ABCG5基因中发现了一种新的纯合子c.904C+5G基因突变。这对母亲和父亲被确认为携带者。对患者及其家人的血液植物类固醇水平进行了研究，患者体内的水平证实了西托类固醇血症。在限制饮食和依折麦布治疗后，谷甾醇水平显著降低。结论在儿童中，谷固醇血症的体征可能很轻微，唯一的症状可能是血液学。因此，对于有口腔细胞增多症和巨噬细胞减少症的儿童，应牢记Sitosterolia。
BackgroundSitosterolemia, also known as phytosterolemia, results from increased intestinal absorption of plant sterols and decreased intestinal and biliary excretion of sterols, resulting in increased levels of plant sterols in the plasma. The most common symptoms include xanthomas, premature atherosclerosis, hemolytic anemia and macrothrombocytopenia, however delayed diagnosis or misdiagnosis also occur.Patient and methodsClinical exome sequencing was performed on a 10-year-old boy whom we followed up with signs of pancytopenia accompanied by macrothrombocytopenia and stomatocytosis. In addition, the blood sterol levels of the patient and his family were studied.ResultsA novel homozygous c.904 + 5G > C intronic variant was detected inABCG5gene in index case. The mother and father were identified as carriers. The blood plant sterol levels of the patient and his family were studied, and the levels in the patient confirmed Sitosterolemia. Sitosterol levels decreased dramatically with restricted diet and ezetimibe treatment.ConclusionIn children, signs of Sitosterolemia may be subtle and the only symptom may be hematological. Therefore, Sitosterolemia should be kept in mind in children with stomatocytosis and macrothrombocytopenia.