Tubular and genetic disorders associated with kidney stones

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• 作者：Nilufar Mohebbi ; Pietro Manuel Ferraro ; Giovanni Gambaro ; Robert Unwin
• 关键词：Urolithiasis ; Nephrolithiasis ; Nephrocalcinosis ; Mutation
• 刊名：Urolithiasis
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：45
• 期：1
• 页码：127-137
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Urology; Nephrology; Medical Biochemistry;
• 出版者：Springer Berlin Heidelberg
• ISSN：2194-7236
• 卷排序：45

文摘

This concise review summarizes our current understanding and the recent developments in genetics and related renal tubular disorders that have been linked with, or have been shown to be causal in, renal stone disease. The aim is to provide a readily accessible quick and easy update for urologists, nephrologists and endocrine or metabolic physicians whose practice involves the diagnosis and management of nephrolithiasis. An important message is to always consider a seemingly rare, and usually genetic, cause of kidney stones, since some of these are emerging as more common than originally thought, especially in adult clinical practice in which a family history of stones is a common finding.