Suppr超能文献

结节性硬化症合并多囊肾病:肾移植后雷帕霉素的作用

Tuberous sclerosis associated with polycystic kidney disease: effects of rapamycin after renal transplantation.

作者信息

Rosado C, García-Cosmes P, Fraile P, Vázquez-Sánchez F

机构信息

Service of Nephrology, University Hospital of Salamanca, Paseo de San Vicente 58-182, 37007 Salamanca, Spain.

出版信息

Case Rep Transplant. 2013;2013:397087. doi: 10.1155/2013/397087. Epub 2013 Jan 17.

Abstract

Tuberous sclerosis is rarely associated with autosomal dominant polycystic kidney disease in the so-called tuberous sclerosis complex. This association leads to an increased frequency of end-stage renal disease. We present a patient suffering from both syndromes, who received a renal graft and anticalcineurinic drugs as immunosuppressive agents. Progressive titration of the drug was necessary in order to attain the effective doses due to the enzymatic induction caused by concomitant treatment with antiepileptic drugs. These high doses resulted in nephrotoxicity. Immunosuppressor treatment was switched to rapamycin, whereby an improvement in renal function and other signs of tuberous sclerosis and polycystic kidney disease was observed. This case report highlights both the efficacy and safety of rapamycin as an immunosuppressor treatment and its capacity for controlling other symptoms of these genetic-related disorders.

摘要

在所谓的结节性硬化症复合体中,结节性硬化症很少与常染色体显性多囊肾病相关联。这种关联导致终末期肾病的发病率增加。我们报告了一位患有这两种综合征的患者,该患者接受了肾移植,并使用抗钙调神经磷酸酶药物作为免疫抑制剂。由于同时使用抗癫痫药物引起酶诱导作用,为达到有效剂量需要逐步滴定药物。这些高剂量导致了肾毒性。免疫抑制剂治疗改为雷帕霉素,从而观察到肾功能以及结节性硬化症和多囊肾病的其他症状有所改善。本病例报告突出了雷帕霉素作为免疫抑制剂治疗的有效性和安全性,以及它控制这些遗传相关疾病其他症状的能力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/416a/3562616/9420afdacebc/CRIM.TRANSPLANTATION2013-397087.001.jpg

相似文献

1
Tuberous sclerosis associated with polycystic kidney disease: effects of rapamycin after renal transplantation.
Case Rep Transplant. 2013;2013:397087. doi: 10.1155/2013/397087. Epub 2013 Jan 17.
2
Tuberous sclerosis complex with polycystic kidney disease of the adult type: the TSC2/ADPKD1 contiguous gene syndrome.
Int J Surg Pathol. 2008 Oct;16(4):375-85. doi: 10.1177/1066896908319578. Epub 2008 Jul 8.
4
Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.
Pediatr Radiol. 2015 Mar;45(3):386-95. doi: 10.1007/s00247-014-3147-1. Epub 2014 Oct 30.
5
Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor.
J Pediatr. 2017 Aug;187:318-322.e2. doi: 10.1016/j.jpeds.2017.05.015. Epub 2017 Jun 7.
7
Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo.
BMJ Case Rep. 2014 Dec 17;2014:bcr2014207471. doi: 10.1136/bcr-2014-207471.
8
9
Rapamycin as a therapy of choice after renal transplantation in a patient with tuberous sclerosis complex.
Transplant Proc. 2009 Nov;41(9):3677-82. doi: 10.1016/j.transproceed.2009.06.227.

引用本文的文献

1
The Efficacy and Safety of Rapamycin in Children with Tuberous Sclerosis: A Cross-sectional Study.
Iran J Child Neurol. 2023 Spring;17(2):19-29. doi: 10.22037/ijcn.v17i2.36243. Epub 2023 Mar 15.
2
Peripheral tissular analysis of rapamycin's effect as a neuroprotective agent in vivo.
Naunyn Schmiedebergs Arch Pharmacol. 2022 Oct;395(10):1239-1255. doi: 10.1007/s00210-022-02276-6. Epub 2022 Jul 27.
3
Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo.
BMJ Case Rep. 2014 Dec 17;2014:bcr2014207471. doi: 10.1136/bcr-2014-207471.
4
Familial syndromes associated with intracranial tumours: a review.
Childs Nerv Syst. 2014 Jan;30(1):47-64. doi: 10.1007/s00381-013-2309-z. Epub 2013 Nov 6.
5
Polycystic kidney disease and chronic renal failure in tuberous sclerosis.
BMJ Case Rep. 2013 Oct 2;2013:bcr2013200711. doi: 10.1136/bcr-2013-200711.
6
Rapamycin, Autophagy, and Alzheimer's Disease.
J Biochem Pharmacol Res. 2013 Jun;1(2):84-90.

本文引用的文献

1
The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective.
Childs Nerv Syst. 2011 Aug;27(8):1203-10. doi: 10.1007/s00381-011-1406-0. Epub 2011 Feb 9.
2
Tuberous sclerosis complex: tumors and tumorigenesis.
Int J Dermatol. 2011 Jan;50(1):13-20. doi: 10.1111/j.1365-4632.2010.04727.x.
3
The potential benefits of rapamycin on renal function, tolerance, fibrosis, and malignancy following transplantation.
Kidney Int. 2010 Dec;78(11):1075-9. doi: 10.1038/ki.2010.324. Epub 2010 Sep 22.
4
Sirolimus in renal transplant recipients with tuberous sclerosis complex: clinical effectiveness and implications for innate immunity.
Transpl Int. 2010 Aug;23(8):777-85. doi: 10.1111/j.1432-2277.2009.01041.x. Epub 2010 Jan 11.
5
Rapamycin as a therapy of choice after renal transplantation in a patient with tuberous sclerosis complex.
Transplant Proc. 2009 Nov;41(9):3677-82. doi: 10.1016/j.transproceed.2009.06.227.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验