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特发性肾结石遗传力综述。

A review of the heritability of idiopathic nephrolithiasis.

作者信息

Griffin D G

机构信息

Department of Chemical Pathology, Morrison Hospital, Swansea, UK.

出版信息

J Clin Pathol. 2004 Aug;57(8):793-6. doi: 10.1136/jcp.2003.014886.

Abstract

Familial aggregations of nephrolithiasis were already noted in the early 19th century and over the intervening years there has been gradual progression in classifying the familial forms of nephrolithiasis. To date, there are at least 10 different monogenic conditions where those affected have a predisposition to nephrolithiasis. However, all of these rare conditions probably account for less than 2% of renal stone formers. This review, rather than considering these clearly defined disorders, concentrates on research into the broad band of stone formers who have a propensity to nephrolithiasis without an obvious discrete genetic basis.

摘要

19世纪早期就已注意到肾结石的家族聚集现象,在这期间,对家族性肾结石的分类逐渐取得进展。迄今为止,至少有10种不同的单基因疾病,患者易患肾结石。然而,所有这些罕见疾病导致的肾结石患者可能不到2%。本综述不考虑这些明确界定的疾病,而是专注于对一大类易患肾结石但无明显离散遗传基础的结石形成者的研究。

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本文引用的文献

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Idiopathic hypercalciuria: a preliminary report.特发性高钙尿症:初步报告。
Proc R Soc Med. 1953 Dec;46(12):1077-81. doi: 10.1177/003591575304601218.
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Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24.
J Clin Endocrinol Metab. 1999 Nov;84(11):3907-13. doi: 10.1210/jcem.84.11.6155.
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Genetic and dietary influences on urinary oxalate excretion.
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