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齐尔韦格谱系障碍中的急性迟发性肝硬化

Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder.

作者信息

Hsu Mark, Subhash Amith

机构信息

Department of Internal Medicine, Kirk Kerkorian School of Medicine at UNLV, Las Vegas, NV, USA.

Department of Gastroenterology, Kirk Kerkorian School of Medicine at UNLV, Las Vegas, NV, USA.

出版信息

Case Rep Gastroenterol. 2023 Mar 8;17(1):168-171. doi: 10.1159/000529353. eCollection 2023 Jan-Dec.

DOI:10.1159/000529353
PMID:36910879
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9996246/
Abstract

Zellweger spectrum disorders (ZSDs) are known to present with variable hepatic manifestations ranging from benign hepatosplenomegaly and elevated liver enzymes to advanced liver cirrhosis with hepatocellular carcinoma. However, the progression of liver disease in ZSD patients over time is poorly characterized due to scarcity of the disease. Herein, we report a case of newly diagnosed liver cirrhosis in a ZSD patient with rapid progression and fatal outcome to demonstrate key clinical learning points.

摘要

已知脑肝肾综合征（ZSDs）会出现多种肝脏表现，从良性肝脾肿大和肝酶升高到伴有肝细胞癌的晚期肝硬化。然而，由于该疾病罕见，ZSD患者肝脏疾病随时间的进展情况鲜为人知。在此，我们报告一例新诊断为肝硬化的ZSD患者，其病情进展迅速并导致死亡，以展示关键的临床经验教训。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a023/9996246/554fbcbb5efe/crg-2022-0017-0001-529353_f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a023/9996246/554fbcbb5efe/crg-2022-0017-0001-529353_f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a023/9996246/554fbcbb5efe/crg-2022-0017-0001-529353_f1.jpg

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本文引用的文献

1
Cholbam® and Zellweger spectrum disorders: treatment implementation and management.Cholbam® 和 Zellweger 谱系障碍：治疗实施和管理。
Orphanet J Rare Dis. 2021 Sep 14;16(1):388. doi: 10.1186/s13023-021-01940-z.
2
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder.13 名 Zellweger 谱疾病患者的肝脏症状和组织学表现。
J Inherit Metab Dis. 2019 Sep;42(5):955-965. doi: 10.1002/jimd.12132. Epub 2019 Jul 30.
3
Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder.对一名泽尔韦格谱系障碍患者进行的长期胆酸治疗
Case Rep Gastroenterol. 2018 Nov 21;12(3):661-670. doi: 10.1159/000494555. eCollection 2018 Sep-Dec.
4
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.轻度泽尔韦格谱系障碍的活体肝移植：长达17年的随访
Pediatr Transplant. 2018 May;22(3):e13112. doi: 10.1111/petr.13112. Epub 2018 Feb 16.
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Cholic acid therapy in Zellweger spectrum disorders.胆汁酸疗法治疗泽尔韦格谱系障碍。
J Inherit Metab Dis. 2016 Nov;39(6):859-868. doi: 10.1007/s10545-016-9962-9. Epub 2016 Jul 28.
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Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease.来自杂合子父母的活体肝移植治疗婴儿型Refsum病
Pediatrics. 2016 Jun;137(6). doi: 10.1542/peds.2015-3102.
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Curr Drug Metab. 2012 Dec;13(10):1401-11. doi: 10.2174/138920012803762747.
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Mol Genet Metab. 2009 Mar;96(3):121-8. doi: 10.1016/j.ymgme.2008.11.165. Epub 2009 Jan 10.
9
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.来自活体亲属供体的原位肝移植用于一名患有婴儿型雷夫叙姆病过氧化物酶体生物发生缺陷的婴儿。
J Inherit Metab Dis. 2005;28(4):593-600. doi: 10.1007/s10545-005-0593-9.
10
Oral bile acid treatment and the patient with Zellweger syndrome.口服胆汁酸治疗与齐尔韦格综合征患者
Hepatology. 1992 Feb;15(2):198-207. doi: 10.1002/hep.1840150206.