一名无症状成年人被诊断出患有胆固醇酯贮积病（CESD）。 - Suppr

Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult.

作者信息

Chatrath Hemant, Keilin Steven, Attar Bashar M

机构信息

Department of Medicine, John H. Stroger Jr. Hospital of Cook County, Rush University, 1901 W Harrison St, Chicago, IL 60612, USA.

出版信息

Dig Dis Sci. 2009 Jan;54(1):168-73. doi: 10.1007/s10620-008-0310-2. Epub 2008 May 14.

DOI:10.1007/s10620-008-0310-2

PMID:18478331

Abstract

摘要

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Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult.一名无症状成年人被诊断出患有胆固醇酯贮积病（CESD）。

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Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens.在肝活检标本中具有支持胆固醇酯贮积病诊断的独特组织病理学特征。

Histopathology. 2012 Jun;60(7):1107-13. doi: 10.1111/j.1365-2559.2011.04164.x.

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Cholesterol trafficking-related serum lipoprotein functions in children with cholesteryl ester storage disease.胆固醇酯贮积病患儿中与胆固醇转运相关的血清脂蛋白功能

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LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters.LIPA 基因突变影响脂蛋白的组成：富含 ACAT 衍生的胆固醇酯。

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Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood. Report on two cases with remarks on the nature of the liver storage process.

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Liver histology in cholesteryl ester storage disease.

Indian J Pathol Microbiol. 2018 Apr-Jun;61(2):302-304. doi: 10.4103/IJPM.IJPM_260_17.

Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease.胆固醇酯贮积症以混合型高脂血症为首发表现

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S11-3. doi: 10.1007/s10545-008-1027-2. Epub 2009 Feb 15.

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Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.LIPA 基因常见错义变异对脂肪性肝病及血脂表型的影响：单中心观察性研究的新视角。

Pharmacol Res Perspect. 2021 Oct;9(5):e00820. doi: 10.1002/prp2.820.

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Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.溶酶体贮积症中前体mRNA剪接突变的影响、特征及挽救

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Orthotopic liver transplantation in an adult with cholesterol ester storage disease.一名患有胆固醇酯贮积病的成年人接受原位肝移植。

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本文引用的文献

Prevalence of cholesteryl ester storage disease.胆固醇酯贮积病的患病率。

Arterioscler Thromb Vasc Biol. 2007 Aug;27(8):1866-8. doi: 10.1161/ATVBAHA.107.146639.

Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease.用洛伐他汀和依折麦布治疗一名患有胆固醇酯贮积病青少年的血脂异常。

Lipids Health Dis. 2005 Oct 28;4:26. doi: 10.1186/1476-511X-4-26.

Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report.胆固醇酯贮积病中的严重慢性腹泻和体重减轻：一例报告

World J Gastroenterol. 2005 Apr 21;11(15):2364-6. doi: 10.3748/wjg.v11.i15.2364.

Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice.溶酶体酸性脂肪酶缺乏症：通过腺病毒介导的基因转移纠正小鼠脂质储存。

Hum Gene Ther. 2002 Jul 20;13(11):1361-72. doi: 10.1089/104303402760128586.

Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease.

Int J Clin Pharmacol Ther. 2001 May;39(5):199-204. doi: 10.5414/cpp39199.

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.一名患有高胆固醇血症、动脉粥样硬化加速和肝癌的成年人的胆固醇酯贮积病亚临床病程。

J Hepatol. 2000 Mar;32(3):528-34. doi: 10.1016/s0168-8278(00)80407-9.

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.决定沃尔曼病和胆固醇酯贮积病表型的溶酶体酸性脂肪酶突变。

Mol Genet Metab. 1999 Nov;68(3):333-45. doi: 10.1006/mgme.1999.2904.

Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.肝脾肿大性脂质沉积症：除戈谢病外还能是什么？成人胆固醇酯贮积病（CESD）伴贫血、肠系膜脂肪营养不良、血浆壳三糖苷酶活性升高及纯合子溶酶体酸性脂肪酶-1外显子8剪接连接突变。

J Hepatol. 1999 Oct;31(4):741-6. doi: 10.1016/s0168-8278(99)80356-0.

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.沃尔曼病潜在的分子缺陷似乎比导致胆固醇酯贮积病的分子缺陷更具异质性。

J Lipid Res. 1999 Feb;40(2):221-8.

New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.新的溶酶体酸性脂肪酶基因突变解释了沃尔曼病和胆固醇酯贮积病的表型。

J Lipid Res. 1998 Jul;39(7):1382-8.

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Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult.

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