模拟家族性乳糜微粒血症综合征的1a型糖原储存病1例。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI:10.2478/bjmg-2021-0013
A Olgac, I Okur, G Biberoğlu, F S Ezgü, L Tümer
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引用次数: 1

摘要

糖原储存病1a型(GSD1a)是由编码葡萄糖-6-磷酸酶-α (G6Pase-α)酶催化亚基的G6PC基因突变引起的常染色体隐性遗传先天性代谢错误。这种酶在糖异生和糖原分解的最后一步起作用。携带GSD1a的患者表现为生长迟缓、低血糖、肝肿大、肝脂肪变性、高脂血症、高尿酸血症和乳酸血症。长期症状包括痛风性关节炎和尿酸结石、骨质疏松症、肾衰竭、肠道损害、肝硬化和肝腺瘤,最后是肝细胞癌。高脂血症是GSD1a代谢控制不良的指标。文献中曾报道过甘油三酯(TGs)水平变化的患者。我们提出了一个GSD1a的情况下,提出了严重的高甘油三酯血症(HTG)模仿家族性乳糜低血症综合征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A Case of Glycogen Storage Disease Type 1a Mimicking Familial Chylomicronemia Syndrome.

A Case of Glycogen Storage Disease Type 1a Mimicking Familial Chylomicronemia Syndrome.

Glycogen storage disease type 1a (GSD1a) is an autosomal recessively inherited inborn error of metabolism caused by a mutation in the G6PC gene, which encodes the catalytic subunit of glucose-6-phosphatase-α (G6Pase-α) enzyme. This enzyme plays a role in the final step of gluconeogenesis and glycogenolysis. Patients carrying GSD1a show growth retardation, hypoglycemia, hepatomegaly, hepatic steatosis, hyperlipidemia, hyperuricemia and lactic acidemia. Long-term symptoms include gouty arthritis and uric acid stones, osteoporosis, renal failure, intestinal impairment, cirrhosis and hepatic adenomas, and eventually, hepatocellular carcinoma. Hyperlipidemia is the indicator of poor metabolic control in GSD1a. Patients with variable levels of triglycerides (TGs) have been reported in the literature. We present a case of GSD1a that presented with severe hypertriglyceridemia (HTG) mimicking familial chylomicronemia syndrome.

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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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