• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

开放性开窗术治疗常染色体显性遗传性多囊肝病的疗效

Effectiveness of Open Fenestration for Autosomal Dominant Polycystic Liver Disease.

作者信息

Norcia Luiz Fernando, Watanabe Erika Mayumi, Hasimoto Claudia Nishida, Pelafsky Leonardo, de Oliveira Walmar Kerche, Sassaki Ligia Yukie

机构信息

Department of Internal Medicine, São Paulo State University (Unesp), Medical School, Botucatu, Brazil.

Department of Radiology, São Paulo State University (Unesp), Medical School, Botucatu, Brazil.

出版信息

Case Rep Gastroenterol. 2022 Mar 31;16(1):201-208. doi: 10.1159/000523662. eCollection 2022 Jan-Apr.

DOI:10.1159/000523662
PMID:35528778
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9035950/
Abstract

Autosomal dominant polycystic liver disease (ADPLD) is a rare disease with variable clinical presentations, characterized by cystic enlargement of the liver. The diagnosis is made based on family history, patient's age, and liver phenotype and is confirmed by imaging tests. The treatment aims to reduce symptoms caused by the increased liver volume and can be performed by aspiration with sclerotherapy, fenestration, and liver resection. Although ADPLD is a rare disease, it is an important differential diagnosis of cystic diseases such as polycystic kidney disease; therefore, the aim of this article was to present the diagnostic and therapeutic approach of a case of ADPLD and conducting a literature review. This is the case of a 32-year-old male patient, who was hospitalized due to abdominal pain, hepatomegaly, lack of appetite, and weight loss. Imaging propaedeutics showed a significant increase in the liver volume due to hepatic cysts. After a multidisciplinary evaluation, given the clinical changes and the location of the hepatic cysts, fenestration was performed by laparotomy. The postoperative period was uneventful. The treatment was efficient in promoting symptomatic relief and improving the quality of life in this patient. Case reports on this disease are quite limited in the currently available literature, and there are gaps in knowledge with regard to the diagnosis and management of ADPLD. The importance of this article is that it will highlight the limitations in treatment options and allow physicians to make a more informed decision when diagnosing and treating a patient with ADPLD in the future.

摘要

常染色体显性遗传性多囊肝病(ADPLD)是一种临床表现多样的罕见疾病,其特征为肝脏的囊性肿大。诊断基于家族史、患者年龄和肝脏表型,并通过影像学检查得以证实。治疗旨在减轻因肝脏体积增大引起的症状,可通过硬化剂注射抽吸、开窗术和肝切除术来进行。尽管ADPLD是一种罕见疾病,但它是多囊肾病等囊性疾病的重要鉴别诊断;因此,本文的目的是介绍一例ADPLD病例的诊断和治疗方法,并进行文献综述。这是一例32岁男性患者,因腹痛、肝肿大、食欲不振和体重减轻入院。影像学初步检查显示由于肝囊肿导致肝脏体积显著增大。经过多学科评估,鉴于临床变化和肝囊肿的位置,通过剖腹手术进行了开窗术。术后恢复顺利。该治疗有效地缓解了症状并改善了该患者的生活质量。关于这种疾病的病例报告在当前可用文献中相当有限,并且在ADPLD的诊断和管理方面存在知识空白。本文的重要性在于它将突出治疗选择的局限性,并使医生在未来诊断和治疗ADPLD患者时能够做出更明智的决策。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7478/9035950/6387cdbab2eb/crg-0016-0201-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7478/9035950/f716d07dacfd/crg-0016-0201-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7478/9035950/8036e19a5315/crg-0016-0201-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7478/9035950/6387cdbab2eb/crg-0016-0201-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7478/9035950/f716d07dacfd/crg-0016-0201-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7478/9035950/8036e19a5315/crg-0016-0201-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7478/9035950/6387cdbab2eb/crg-0016-0201-g03.jpg

相似文献

1
Effectiveness of Open Fenestration for Autosomal Dominant Polycystic Liver Disease.开放性开窗术治疗常染色体显性遗传性多囊肝病的疗效
Case Rep Gastroenterol. 2022 Mar 31;16(1):201-208. doi: 10.1159/000523662. eCollection 2022 Jan-Apr.
2
Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county.奥姆斯特德县常染色体显性遗传性多囊肝病的流行病学
JHEP Rep. 2020 Aug 4;2(6):100166. doi: 10.1016/j.jhepr.2020.100166. eCollection 2020 Dec.
3
Center is an important indicator for choice of invasive therapy in polycystic liver disease.中心是多囊肝病侵袭性治疗选择的重要指标。
Transpl Int. 2017 Jan;30(1):76-82. doi: 10.1111/tri.12875. Epub 2016 Nov 22.
4
Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.新型α-1,3-葡糖基转移酶变异体及其广泛的多囊肝病谱。
Genes (Basel). 2023 Aug 19;14(8):1652. doi: 10.3390/genes14081652.
5
Pathophysiology, epidemiology, classification and treatment options for polycystic liver diseases.多囊肝疾病的病理生理学、流行病学、分类和治疗选择。
World J Gastroenterol. 2013 Sep 21;19(35):5775-86. doi: 10.3748/wjg.v19.i35.5775.
6
Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry.多囊肝疾病的严重程度与病因和性别有关:国际多囊肝登记处的结果。
Liver Int. 2019 Mar;39(3):575-582. doi: 10.1111/liv.13965. Epub 2018 Oct 8.
7
Treatment of highly symptomatic polycystic liver disease. Preliminary experience with a combined hepatic resection-fenestration procedure.高度症状性多囊肝疾病的治疗。肝切除联合开窗术的初步经验。
Ann Surg. 1990 Jul;212(1):30-7. doi: 10.1097/00000658-199007000-00005.
8
Polycystic liver disease with lethal abdominal wall rupture: a case report.多囊肝合并致命性腹壁破裂 1 例报告
J Med Case Rep. 2021 Aug 3;15(1):421. doi: 10.1186/s13256-021-02964-6.
9
Polycystic liver disease genes: Practical considerations for genetic testing.多囊性肝病基因:基因检测的实用考量。
Eur J Med Genet. 2021 Mar;64(3):104160. doi: 10.1016/j.ejmg.2021.104160. Epub 2021 Feb 6.
10
Liver resection and cyst fenestration in the treatment of severe polycystic liver disease.肝切除术和囊肿开窗术治疗重度多囊肝疾病
Gastroenterology. 1995 Feb;108(2):487-94. doi: 10.1016/0016-5085(95)90078-0.

引用本文的文献

1
A Case Study of Liver After Kidney Transplantation: Addressing Polycystic Diseases With Tailored Surgical and Postoperative Approaches.肾移植后肝脏的病例研究:采用定制的手术及术后方法治疗多囊性疾病
Clin Case Rep. 2025 Jun 4;13(6):e70484. doi: 10.1002/ccr3.70484. eCollection 2025 Jun.

本文引用的文献

1
Polycystic liver disease: Classification, diagnosis, treatment process, and clinical management.多囊肝病:分类、诊断、治疗过程及临床管理。
World J Hepatol. 2020 Mar 27;12(3):72-83. doi: 10.4254/wjh.v12.i3.72.
2
A Practical Approach to Polycystic Liver Disease.多囊肝病的实用治疗方法
Clin Liver Dis (Hoboken). 2019 Dec 20;14(5):176-179. doi: 10.1002/cld.864. eCollection 2019 Nov.
3
Mutation Carriers Develop Kidney and Liver Cysts.突变携带者会出现肾和肝囊肿。
J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298. Epub 2019 Aug 8.
4
Genetics of polycystic liver diseases.多囊肝疾病的遗传学。
Curr Opin Gastroenterol. 2019 Mar;35(2):65-72. doi: 10.1097/MOG.0000000000000514.
5
Polycystic Kidney Disease.多囊肾病
Compr Physiol. 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018.
6
Polycystic liver diseases: advanced insights into the molecular mechanisms.多囊肝病:分子机制的前沿见解
Nat Rev Gastroenterol Hepatol. 2014 Dec;11(12):750-61. doi: 10.1038/nrgastro.2014.155. Epub 2014 Sep 30.
7
Medical and surgical treatment options for polycystic liver disease.多囊肝疾病的医学及外科治疗选择
Hepatology. 2010 Dec;52(6):2223-30. doi: 10.1002/hep.24036.
8
Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.因孤立性多囊肝病就诊于肝脏中心的患者:137 例病例的临床特征。
Liver Int. 2011 Jan;31(1):92-8. doi: 10.1111/j.1478-3231.2010.02247.x.
9
Isolated polycystic liver disease.孤立性多囊肝病。
Adv Chronic Kidney Dis. 2010 Mar;17(2):181-9. doi: 10.1053/j.ackd.2009.12.005.
10
Polycystic liver disease: a critical appraisal of hepatic resection, cyst fenestration, and liver transplantation.多囊肝病:肝切除术、囊肿开窗术及肝移植的批判性评估
Ann Surg. 2009 Jul;250(1):112-8. doi: 10.1097/SLA.0b013e3181ad83dc.