一名患有短暂性婴儿高甘油三酯血症的中国患者中甘油-3-磷酸脱氢酶1基因的新型纯合突变：病例报告
A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report.
作者信息
Li Jia-Qi, Xie Xin-Bao, Feng Jia-Yan, Chen Lian, Abuduxikuer Kuerbanjiang, Lu Yi, Li Yu-Chuan, Wang Jian-She
机构信息
Department of Pediatrics, Jinshan Hospital of Fudan University, 1508 Longhang Road, Jinshan District, Shanghai, 201508, China.
The Center for Pediatric Liver Disease, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China.
出版信息
BMC Gastroenterol. 2018 Jun 25;18(1):96. doi: 10.1186/s12876-018-0827-6.
BACKGROUND
Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene.
CASE PRESENTATION
We report a case of HTGTI in a Chinese female infant. She presented with hepatomegaly, hypertriglyceridemia, moderately elevated transaminases, and hepatic steatosis at 3.5 months of age. A novel mutation c.523C>T, p. (Q175*) was identified in GPD1. The patient was a homozygote and her parents were heterozygous for the mutation. Ultrastructural study showed intrahepatocytic lipid droplets.
CONCLUSIONS
This is the first reported case of HTGTI in Chinese, expanding the worldwide distribution of HTGTI and the mutation spectrum of GPD1.
背景
短暂性婴儿高甘油三酯血症（HTGTI）是一种由甘油-3-磷酸脱氢酶1（GPD1）基因突变引起的常染色体隐性疾病。
病例报告
我们报告1例中国女婴患HTGTI的病例。她在3.5月龄时出现肝肿大、高甘油三酯血症、转氨酶中度升高和肝脂肪变性。在GPD1基因中鉴定出一种新的突变c.523C>T，p.（Q175*）。该患者为纯合子，其父母为该突变的杂合子。超微结构研究显示肝内脂质小滴。
结论
这是中国首次报道的HTGTI病例，扩大了HTGTI在全球的分布范围以及GPD1的突变谱。
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