The genetic framework for development of nephrolithiasis

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摘要 Over 1%-15% of the population worldwide is affected by nephrolithiasis, which remains the most common and costly disease that urologists manage today. Identification of atrisk individuals remains a theoretical and technological challenge. The search for monogenic causes of stone disease has been largely unfruitful and a technological challenge; however, several candidate genes have been implicated in the development of nephrolithiasis. In this review, we will review current data on the genetic inheritance of stone disease, as well as investigate the evolving role of genetic analysis and counseling in the management of nephrolithiasis.

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	Vinaya Vasudevan
	Patrick Samson
	Arthur D. Smith
	Zeph Okeke

关键词: Genetics Hypercalciuria Nephrolithiasis Urolithiasis Calcium sensing receptor Cystinuria Medullary sponge kidney Autosomal dominant polcystic kidney disease Uric acid nephrolithiasis Hypercalciuria

Abstract: Over 1%-15% of the population worldwide is affected by nephrolithiasis, which remains the most common and costly disease that urologists manage today. Identification of atrisk individuals remains a theoretical and technological challenge. The search for monogenic causes of stone disease has been largely unfruitful and a technological challenge; however, several candidate genes have been implicated in the development of nephrolithiasis. In this review, we will review current data on the genetic inheritance of stone disease, as well as investigate the evolving role of genetic analysis and counseling in the management of nephrolithiasis.

Key words: Genetics Hypercalciuria Nephrolithiasis Urolithiasis Calcium sensing receptor Cystinuria Medullary sponge kidney Autosomal dominant polcystic kidney disease Uric acid nephrolithiasis Hypercalciuria

收稿日期: 2016-07-07 修回日期: 2016-07-12 出版日期: 2017-01-01 发布日期: 2017-02-16 整期出版日期: 2017-01-01

通讯作者: Zeph Okeke,E-mail address:ZOkeke@northwell.edu E-mail: ZOkeke@northwell.edu

引用本文:

Vinaya Vasudevan, Patrick Samson, Arthur D. Smith, Zeph Okeke. The genetic framework for development of nephrolithiasis[J]. Asian Journal of Urology, 2017, 4(1): 18-26.
Vinaya Vasudevan, Patrick Samson, Arthur D. Smith, Zeph Okeke. The genetic framework for development of nephrolithiasis. Asian Journal of Urology, 2017, 4(1): 18-26.

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http://www.ajurology.com/CN/ 或 http://www.ajurology.com/CN/Y2017/V4/I1/18

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