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常染色体显性成人多囊肾病的尸检报告及临床与病理生理学讨论

Autopsy report with clinical and pathophysiologic discussion of autosomal dominant adult polycystic kidney disease.

作者信息

Hazra Anup, Siderits Richard, Rimmer Cheryl, Rolleri Noah

机构信息

Department of Pathology and Laboratory Medicine, Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA ; Robert Wood Johnson University Hospital-Hamilton, 1 Hamilton Health Place, Hamilton, NJ 08690, USA.

出版信息

Case Rep Urol. 2014;2014:727580. doi: 10.1155/2014/727580. Epub 2014 Sep 17.

DOI:10.1155/2014/727580
PMID:25313343
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4182844/
Abstract

The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal, causing progressive renal failure, often necessitating dialysis or renal transplant for survival. We report a case of adult polycystic kidney disease in a 50-year-old female without a family history, who died of complications of the disease which included accelerated hypertension, and renal and cardiac failure.

摘要

肾脏的平均重量约为135克,平均尺寸为10×6×4厘米。在遗传性疾病,如常染色体显性和常染色体隐性多囊肾病中,肾脏的形状、大小和重量可能会显著异常,导致进行性肾衰竭,常常需要透析或肾移植才能存活。我们报告一例50岁无家族病史的成年女性多囊肾病病例,该患者死于该疾病的并发症,包括恶性高血压、肾衰竭和心力衰竭。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11c0/4182844/397689208ee7/CRIU2014-727580.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11c0/4182844/9f6a117188f7/CRIU2014-727580.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11c0/4182844/d4e2bd52aadb/CRIU2014-727580.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11c0/4182844/b0e03f723b91/CRIU2014-727580.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11c0/4182844/397689208ee7/CRIU2014-727580.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11c0/4182844/9f6a117188f7/CRIU2014-727580.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11c0/4182844/d4e2bd52aadb/CRIU2014-727580.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11c0/4182844/b0e03f723b91/CRIU2014-727580.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11c0/4182844/397689208ee7/CRIU2014-727580.004.jpg

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本文引用的文献

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Efficacy and safety of mTOR inhibitor therapy in patients with early-stage autosomal dominant polycystic kidney disease: a meta-analysis of randomized controlled trials.mTOR 抑制剂治疗常染色体显性遗传多囊肾病患者的疗效和安全性:一项随机对照试验的荟萃分析。
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Exp Cell Res. 2012 Aug 1;318(13):1508-16. doi: 10.1016/j.yexcr.2012.03.021. Epub 2012 Mar 30.
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J Am Soc Nephrol. 2009 Aug;20(8):1833-8. doi: 10.1681/ASN.2009020162. Epub 2009 May 14.
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Lancet. 2007 Apr 14;369(9569):1287-1301. doi: 10.1016/S0140-6736(07)60601-1.
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Molecular pathogenesis of ADPKD: the polycystin complex gets complex.常染色体显性多囊肾病的分子发病机制:多囊蛋白复合体变得复杂。
Kidney Int. 2005 Apr;67(4):1234-47. doi: 10.1111/j.1523-1755.2005.00201.x.
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