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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.

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/f716d07dacfd/crg-0016-0201-g01.jpg

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