Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.
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无β脂蛋白血症和纯合家族性低β脂蛋白血症中形成的餐后残留样颗粒的极端对比。
DOI：
10.1007/8904_2015_415
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发表时间：
2015
期刊：
影响因子：
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通讯作者：
Yamagishi M.
中科院分区：
文献类型：
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作者：
Kawashiri MA;Tada H;Hashimoto M;Taniyama M;Nakano T;Nakajima K;Inoue T;Mori M;Nakanishi C;Konno T;Hayashi K;Nohara A;Inazu A;Koizumi J;Ishihara H;Kobayashi J;Hirano T;Mabuchi H;Yamagishi M.
背景：家族性低脂蛋白血症（FHBL）和高脂蛋白血症（ABL）是罕见的遗传性低血脂。其鉴别诊断对预测预后和选择适当的治疗具有重要意义。材料与方法：对2例近亲出生的原发性低胆固醇血症患者进行遗传分析。对1例FHBL患者（apoB-87.77）和1例ABL患者以及4例正常对照进行口服脂肪耐受试验（OFTT）。禁食一夜后，抽取血液样本。采用高效液相色谱法测定血清脂蛋白和残余样颗粒（RLP）含量。结果：两例纯合子FHBL患者无症状，可能是因为脂溶性维生素，特别是维生素e的水平保持不变。FHBL患者是纯合子的，因为新的载脂蛋白-83.52和载脂蛋白-87.77突变，尽管其中一人（载脂蛋白-87.77）患有脂肪肝，但显微镜检查显示没有非酒精性脂肪性肝炎。纯合子FHBL患者空腹apoB-48和rbp -甘油三酯水平与正常对照组相似，正常对照组和FHBL患者空腹apoB-48和rbp -甘油三酯水平在OFTT后均升高，而ABL患者空腹apoB-48和rbp -甘油三酯水平在OFTT后均升高，提示给药的脂肪负荷仅在FHBL患者中被吸收。结论：尽管纯合子FHBL和ABL患者的脂质水平具有可比性，但空腹、产后脂肪载脂蛋白-48以及rlp -甘油三酯水平可能有助于FHBL和ABL的鉴别诊断，并在未来通过遗传分析提供及时诊断。
Background: Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are rare inherited forms of hypolipidemia. Their differential diagnosis is important for predicting of the prognosis and selecting appropriate therapy.Materials and Methods: Genetic analysis was performed in two patients with primary hypocholesterolemia born from consanguineous parents. The oral fat tolerance test (OFTT) was performed in one patient with FHBL (apoB-87.77) and one with ABL as well as in four normal control subjects. After overnight fasting, blood samples were drawn. Serum lipoprotein and remnant-like particle (RLP) fractions were determined by HPLC analysis.Results: Both patients with homozygous FHBL were asymptomatic probably because of preserved levels of fat-soluble vitamins, especially vitamin E. The patients with FHBL were homozygous because of novel apoB-83.52 and apoB-87.77 mutations, and although one of them (apoB-87.77) had fatty liver disease, microscopic findings suggesting nonalcoholic steatohepatitis were absent. Fasting apoB-48 and RLP-triglyceride levels in the patient with homozygous FHBL, which were similar to those in normal control subjects, increased after OFTT both in normal control subjects and the patient with FHBL but not in the patient with ABL, suggesting that the fat load administered was absorbed only in the patient with FHBL.Conclusion: Although lipid levels in the patients with homozygous FHBL and ABL were comparable, fasting, postoral fat loading of apoB-48, as well as RLP-triglyceride levels, may help in the differential diagnosis of FHBL and ABL and provide a prompt diagnosis using genetic analysis in the future.