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1
A review of the heritability of idiopathic nephrolithiasis.特发性肾结石遗传力综述。
J Clin Pathol. 2004 Aug;57(8):793-6. doi: 10.1136/jcp.2003.014886.
2
[Urine analyses for workup of kidney stone disease--interpretation and therapeutic consequences].[用于肾结石疾病检查的尿液分析——解读与治疗结果]
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3
Contributory metabolic factors in the development of nephrolithiasis in patients with medullary sponge kidney.髓质海绵肾患者肾结石形成中的代谢因素。
Am J Kidney Dis. 2001 Jun;37(6):1140-3. doi: 10.1053/ajkd.2001.24515.
4
[Renal lithiasis: the internist's viewpoint 1986].
Schweiz Med Wochenschr. 1986 Jul 8;116(27-28):902-8.
5
Pharmacologic treatment of calcium calculi.
Urol Clin North Am. 1987 May;14(2):325-33.
6
Rational therapy of nephrolithiasis, Part I.肾结石的合理治疗,第一部分。
Ration Drug Ther. 1984 Nov;18(11):1-6.
7
[The significance of hypocitruria in calcium oxalate induced nephrolithiasis].[低枸橼酸尿症在草酸钙性肾结石中的意义]
Orv Hetil. 1990 Nov 11;131(45):2475-8.
8
Urine citrate and calcium in calcium nephrolithiasis.
Adv Exp Med Biol. 1986;208:445-9. doi: 10.1007/978-1-4684-5206-8_55.
9
[Citrate and kidney stones].[柠檬酸盐与肾结石]
Ugeskr Laeger. 1993 Nov 22;155(47):3835-9.
10
Urine oxalate and calcium in idiopathic renal stone formers.特发性肾结石患者的尿草酸和钙
N Z Med J. 1981 Aug 12;94(689):87-9.

引用本文的文献

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The genetics of kidney stone disease and nephrocalcinosis.肾结石病和肾钙质沉着症的遗传学
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Targeted renal knockdown of Na/H exchanger regulatory factor produces uric acid nephrolithiasis in .靶向肾脏敲低 Na/H 交换调节因子导致 产生尿酸肾结石。
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Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.遗传性厚升支袢和连接小管缺陷导致的肾结石病。
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Heritable traits that contribute to nephrolithiasis.导致肾结石的可遗传特征。
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[Michel de Montaigne (1533-1592). Writer philosopher, kidney stone patient and medical critic].[米歇尔·德·蒙田(1533 - 1592)。作家、哲学家、肾结石患者及医学评论家]
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Heredity in renal stone disease.肾结石病中的遗传因素。
Clin Sci. 1960 Aug;19:465-71.
2
The urinary excretion of calcium and inorganic phosphate in 344 patients with calcium stone of renal origin.344例肾源性钙结石患者的钙和无机磷酸盐尿排泄情况。
Br J Surg. 1958 Jul;46(195):10-8. doi: 10.1002/bjs.18004619504.
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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.
4
Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density.一个与吸收性高钙尿症表型和低脊柱骨密度相关的碱基置换基因的鉴定与表征。
J Clin Endocrinol Metab. 2002 Apr;87(4):1476-85. doi: 10.1210/jcem.87.4.8300.
5
Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24.
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6
Direct correlation between hyperoxaluria/oxalate stone disease and the absence of the gastrointestinal tract-dwelling bacterium Oxalobacter formigenes: possible prevention by gut recolonization or enzyme replacement therapy.高草酸尿症/草酸钙结石病与肠道内栖居细菌产甲酸草酸杆菌缺失之间的直接关联:通过肠道再定植或酶替代疗法实现预防的可能性
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7
Bone density and skeletal metabolism are altered in idiopathic hypercalciuria.特发性高钙尿症患者的骨密度和骨骼代谢会发生改变。
Clin Nephrol. 1998 Aug;50(2):94-100.
8
Genetic and dietary influences on urinary oxalate excretion.
Urol Res. 1998;26(3):195-200. doi: 10.1007/s002400050046.
9
A study of dietary calcium and other nutrients in idiopathic renal calcium stone formers with low bone mineral content.一项关于骨矿物质含量低的特发性肾钙结石患者膳食钙及其他营养素的研究。
J Urol. 1998 Mar;159(3):654-7.
10
Family pattern of idiopathic hypercalciuria and its subtypes.
J Urol. 1996 Mar;155(3):1042-4.

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.

DOI:10.1136/jcp.2003.014886
PMID:15280397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1770398/
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。