Suppr超能文献

Alport综合征中的双侧晶状体前囊破裂:病例系列及文献综述

Bilateral anterior lens capsule rupture in Alport syndrome: case series and literature review.

作者信息

Gouws Danielle, van der Westhuizen Dian P, Stuart Kelsey V

机构信息

Department of Ophthalmology, Robert Mangaliso Sobukwe Hospital, Kimberley, South Africa.

Division of Ophthalmology, Tygerberg Academic Hospital and Stellenbosch University, Cape Town, South Africa.

出版信息

Digit J Ophthalmol. 2024 Aug 4;30(3):55-59. doi: 10.5693/djo.02.2024.03.001. eCollection 2024.

Abstract

We present 3 cases of bilateral anterior lens capsule rupture, all leading to a subsequent diagnosis of Alport syndrome. Clinicians should be alert to the ocular and systemic features of Alport syndrome, especially when presented with a spontaneous rupture of the anterior lens capsule in young males. Ophthalmologists are often the first contact for patients with Alport syndrome, and a sound knowledge of the associated features will enable timely referral to other members of a multidisciplinary team required to treat such patients. Diagnosis and subsequent testing of affected families further aids in genetic counseling and early, comprehensive treatment.

摘要

我们报告了3例双侧晶状体前囊破裂病例,所有病例随后均被诊断为Alport综合征。临床医生应警惕Alport综合征的眼部和全身特征,尤其是当年轻男性出现自发性晶状体前囊破裂时。眼科医生通常是Alport综合征患者的首诊医生,熟悉相关特征将有助于及时转诊至治疗此类患者所需的多学科团队的其他成员。对受影响家庭进行诊断和后续检测有助于进一步开展遗传咨询和早期综合治疗。

相似文献

10
Alport syndrome. A review of the ocular manifestations.奥尔波特综合征。眼部表现综述。
Ophthalmic Genet. 1997 Dec;18(4):161-73. doi: 10.3109/13816819709041431.

本文引用的文献

1
Novel Therapies for Alport Syndrome.奥尔波特综合征的新型疗法
Front Med (Lausanne). 2022 Apr 25;9:848389. doi: 10.3389/fmed.2022.848389. eCollection 2022.
4
Diagnostic Utility of Exome Sequencing for Kidney Disease.外显子组测序在肾脏疾病诊断中的应用。
N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

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