SLC37A4基因新突变致糖原累积病Ⅰb型一家系报道并文献复习Glycogen Storage Disease Ⅰ Type b Caused by New Mutation of SLC37A4 Gene:a Family Report and Literature Review
张远达;董青伟;张少辉;张瑜;桑艳梅;丁召路;
摘要(Abstract)：
糖原累积病(GSD)是一种以糖原代谢异常为主要特征的常染色体隐性遗传病,主要临床表现为肝脏增大、高乳酸血症、高尿酸血症、高脂血症、低糖血症、生长发育迟缓、中性粒细胞计数减少、中性粒细胞功能损伤及炎症性肠病等。本文报道了GSDⅠb型一家系,通过分析其临床特征、肝脏穿刺病理学检查结果及SLC37A4基因测序结果,证实SLC37A4基因c.273C>A(p.N91K)突变(杂合突变),为新型突变,并进行了文献复习以提高临床医师对GSDⅠb型的认识。
关键词(KeyWords)： 糖原贮积病Ⅰ型;系谱;染色体障碍;病例报告;历史文献
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作者(Author): 张远达;董青伟;张少辉;张瑜;桑艳梅;丁召路;
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参考文献(References)：
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