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奥尔波特综合征的多学科管理:当前观点

Multidisciplinary Management of Alport Syndrome: Current Perspectives.

作者信息

Kashtan Clifford

机构信息

Department of Pediatrics, Division of Pediatric Nephrology, University of Minnesota Medical School, Minneapolis, MN, 55454, USA.

出版信息

J Multidiscip Healthc. 2021 May 21;14:1169-1180. doi: 10.2147/JMDH.S284784. eCollection 2021.

DOI:10.2147/JMDH.S284784
PMID:34045864
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8149282/
Abstract

Alport syndrome is a multisystem disorder that universally affects the kidney and frequently involves the inner ear and the eye. Over the course of a lifetime, addressing the health care needs of a person with Alport syndrome and their family entails the services of primary providers, nephrologists, genetic counselors, audiologists, ophthalmologists, transplant physicians, kidney dieticians, and social workers as well as other healthcare professionals. This article attempts to provide context and guidance regarding the multidisciplinary care of Alport syndrome based on the natural history of the condition.

摘要

奥尔波特综合征是一种多系统疾病,普遍影响肾脏,常累及内耳和眼睛。在人的一生中,满足患有奥尔波特综合征的患者及其家人的医疗保健需求需要初级医疗服务提供者、肾病学家、遗传咨询师、听力学家、眼科医生、移植医生、肾脏营养师、社会工作者以及其他医疗保健专业人员的服务。本文试图根据该疾病的自然病程,提供有关奥尔波特综合征多学科护理的背景信息和指导。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3039/8149282/4354f69a79be/JMDH-14-1169-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3039/8149282/4354f69a79be/JMDH-14-1169-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3039/8149282/4354f69a79be/JMDH-14-1169-g0001.jpg

相似文献

1
Multidisciplinary Management of Alport Syndrome: Current Perspectives.奥尔波特综合征的多学科管理:当前观点
J Multidiscip Healthc. 2021 May 21;14:1169-1180. doi: 10.2147/JMDH.S284784. eCollection 2021.
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Alport Syndrome: A Comprehensive Review.奥尔波特综合征:全面综述
Cureus. 2023 Oct 16;15(10):e47129. doi: 10.7759/cureus.47129. eCollection 2023 Oct.
3
Speech, language, and hearing function in twins with Alport syndrome: A seven-year retrospective case report.奥尔波特综合征双胞胎的言语、语言和听力功能:一项七年回顾性病例报告。
J Otol. 2017 Jun;12(2):86-96. doi: 10.1016/j.joto.2017.03.001. Epub 2017 Mar 21.
4
The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha 3(IV) chain: evidence from anti-GBM nephritis after renal transplantation.阿尔波特综合征的发病机制涉及含α3(IV)链的IV型胶原分子:来自肾移植后抗肾小球基底膜肾炎的证据。
Kidney Int. 1992 Jul;42(1):179-87. doi: 10.1038/ki.1992.276.
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Alport syndrome, basement membranes and collagen.阿尔波特综合征、基底膜与胶原蛋白。
Pediatr Nephrol. 1990 Sep;4(5):523-32. doi: 10.1007/BF00869840.
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Alport Syndrome: Achieving Early Diagnosis and Treatment.阿尔波特综合征:实现早期诊断和治疗。
Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22.
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Immunohistologic studies of type IV collagen in anterior lens capsules of patients with Alport syndrome.阿尔波特综合征患者晶状体前囊膜中IV型胶原的免疫组织学研究。
Lab Invest. 1994 Apr;70(4):553-7.
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The inner ear of dogs with X-linked nephritis provides clues to the pathogenesis of hearing loss in X-linked Alport syndrome.患有X连锁肾炎的犬类内耳为X连锁遗传性肾炎综合征听力损失的发病机制提供了线索。
Am J Pathol. 2001 Sep;159(3):1097-104. doi: 10.1016/S0002-9440(10)61785-3.
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Diagnosing Alport Syndrome: Lessons from the Pediatric Ward.诊断 Alport 综合征:儿科病房的经验教训。
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[Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains].[奥尔波特综合征:与IV型胶原链编码基因突变相关的遗传性肾病]
Nephrol Ther. 2016 Dec;12(7):544-551. doi: 10.1016/j.nephro.2016.09.001. Epub 2016 Nov 2.

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Health Sci Rep. 2025 Mar 30;8(4):e70595. doi: 10.1002/hsr2.70595. eCollection 2025 Apr.
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A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.一个靶向基因检测板揭示了不明原因肾衰竭年轻人的发病机制。
J Nephrol. 2024 Jun;37(5):1273-1284. doi: 10.1007/s40620-024-01964-1. Epub 2024 Jun 5.
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A Deeper Insight into , , and Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.

本文引用的文献

1
Genetic Basis of Type IV Collagen Disorders of the Kidney.肾脏 IV 型胶原疾病的遗传基础。
Clin J Am Soc Nephrol. 2021 Jul;16(7):1101-1109. doi: 10.2215/CJN.19171220. Epub 2021 Apr 13.
2
Type A Dissection in a Patient With Alport Syndrome.一名患有阿尔波特综合征患者的A型主动脉夹层。
Circ Cardiovasc Imaging. 2020 Dec;13(12):e010701. doi: 10.1161/CIRCIMAGING.120.010701. Epub 2020 Nov 26.
3
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.
对土耳其阿尔波特综合征队列中COL4A3、COL4A4和COL4A5基因变异及基因型-表型相关性的深入洞察。
Mol Syndromol. 2024 Feb;15(1):1-13. doi: 10.1159/000533915. Epub 2023 Oct 16.
4
MicroRNAs as Biomarkers and Therapeutic Targets for Acute Kidney Injury.微小RNA作为急性肾损伤的生物标志物和治疗靶点
Diagnostics (Basel). 2023 Sep 9;13(18):2893. doi: 10.3390/diagnostics13182893.
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Higher incidence of hematuria was observed in female children with microtia.患有小耳畸形的女性儿童血尿发生率较高。
Sci Rep. 2023 Sep 11;13(1):14926. doi: 10.1038/s41598-023-41330-y.
6
Connective tissue disorders and eye: A review and recent updates.结缔组织疾病与眼:综述及最新进展。
Indian J Ophthalmol. 2023 Jun;71(6):2385-2398. doi: 10.4103/ijo.IJO_286_22.
7
Chronic Kidney Disease: Strategies to Retard Progression.慢性肾脏病:延缓进展的策略。
Int J Mol Sci. 2021 Sep 18;22(18):10084. doi: 10.3390/ijms221810084.
临床实践推荐:儿童、青少年及青年 Alport 综合征的诊断与管理——2020 年更新。
Pediatr Nephrol. 2021 Mar;36(3):711-719. doi: 10.1007/s00467-020-04819-6. Epub 2020 Nov 6.
4
Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.基因型-表型相关性影响日本男性 X 连锁 Alport 综合征患者对血管紧张素靶向药物的反应。
Kidney Int. 2020 Dec;98(6):1605-1614. doi: 10.1016/j.kint.2020.06.038. Epub 2020 Jul 24.
5
A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome.一项多中心、随机、安慰剂对照、双盲3期试验及开放组比较表明,赖诺普利对Alport综合征患儿进行肾保护治疗具有安全性和有效性。
Kidney Int. 2020 Jun;97(6):1275-1286. doi: 10.1016/j.kint.2019.12.015. Epub 2020 Jan 17.
6
SGLT2 inhibitors - a potential treatment for Alport syndrome.SGLT2 抑制剂——治疗 Alport 综合征的一种潜在疗法。
Clin Sci (Lond). 2020 Feb 28;134(4):379-388. doi: 10.1042/CS20191276.
7
Alport Syndrome Therapeutics: Ready for Prime-Time Players.《Alport 综合征治疗学:为黄金时代玩家做好准备》。
Trends Pharmacol Sci. 2019 Nov;40(11):803-806. doi: 10.1016/j.tips.2019.07.012. Epub 2019 Aug 24.
8
New therapeutic options for Alport syndrome.用于 Alport 综合征的新治疗选择。
Nephrol Dial Transplant. 2019 Aug 1;34(8):1272-1279. doi: 10.1093/ndt/gfz131.
9
Chronic Kidney Disease and Pregnancy.慢性肾脏病与妊娠。
Obstet Gynecol. 2019 Jun;133(6):1182-1194. doi: 10.1097/AOG.0000000000003256.
10
Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation.奥尔波特综合征患者的肾移植:患者选择、结局及供体评估
Int J Nephrol Renovasc Dis. 2018 Oct 16;11:267-270. doi: 10.2147/IJNRD.S150539. eCollection 2018.