Cystinuria: an inborn cause of urolithiasis.
Cystinuria: an inborn cause of urolithiasis.
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DOI：
10.1186/1750-1172-7-19
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发表时间：
2012-04-05
影响因子：
3.7
通讯作者：
Zerres K
中科院分区：
文献类型：
--
作者：
Eggermann T;Venghaus A;Zerres K
胱氨酸尿症 (OMIM 220100) 是一种先天性疾病，其特征是胱氨酸代谢缺陷，导致胱氨酸结石形成。在异质性肾结石疾病中，胱氨酸尿症是唯一完全由基因突变引起的疾病。到目前为止，已鉴定出两个导致胱氨酸尿症的基因：SLC3A1（染色体2p21）编码肾b0,+转运蛋白的重亚基rBAT，而SLC7A9（染色体19q12）编码其相互作用的轻亚基b0,+AT。 SLC3A1 突变通常与常染色体隐性遗传模式相关，而 SLC7A9 突变即使在同一家族内也会导致广泛的临床变异。这些基因突变的检出率大于85%，但它受到患者的种族血统和突变的病理生理学意义的影响。除了孤立的胱氨酸尿症外，据报道患有肌张力低下-胱氨酸尿症综合征的患者携带至少包括 2p21 中的 SLC3A1 和 PREPL 基因的缺失。通过对大量患者进行广泛的分子筛选研究，可以鉴定出广泛的突变，对其中的几种变异进行了功能分析，从而可以深入了解疾病的病理学以及胱氨酸和二元氨基酸的肾运输。在我们的综述中，我们将总结当前关于胱氨酸尿作为肾结石先天原因的生理和遗传基础的知识，以及这些知识在基因检测策略中的应用。
Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, cystinuria is the only disorder which is exclusively caused by gene mutations. So far, two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) encodes the heavy subunit rBAT of a renal b0,+ transporter while SLC7A9 (chromosome 19q12) encodes its interacting light subunit b0,+AT. Mutations in SLC3A1 are generally associated with an autosomal-recessive mode of inheritance whereas SLC7A9 variants result in a broad clinical variability even within the same family. The detection rate for mutations in these genes is larger than 85%, but it is influenced by the ethnic origin of a patient and the pathophysiological significance of the mutations. In addition to isolated cystinuria, patients suffering from the hypotonia-cystinuria syndrome have been reported carrying deletions including at least the SLC3A1 and the PREPL genes in 2p21. By extensive molecular screening studies in large cohort of patients a broad spectrum of mutations could be identified, several of these variants were functionally analysed and thereby allowed insights in the pathology of the disease as well as in the renal trafficking of cystine and the dibasic amino acids. In our review we will summarize the current knowledge on the physiological and the genetic basis of cystinuria as an inborn cause of kidney stones, and the application of this knowledge in genetic testing strategies.
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影响因子：
9.8
作者：
Jaeken, J;Martens, K;Matthijs, G
通讯作者：
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影响因子：
19.6
作者：
Botzenhart, E;Vester, U;Eggermann, T
通讯作者：
Eggermann, T
DOI：
10.1089/gte.2005.9.175
发表时间：
2005-09-01
期刊：
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影响因子：
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作者：
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通讯作者：
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DOI：
10.1089/109065703321560886
发表时间：
2003-03-01
期刊：
GENETIC TESTING
影响因子：
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作者：
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通讯作者：
Söderkvist, P
DOI：
10.1097/01.asn.0000029586.17680.e5
发表时间：
2002-10-01
影响因子：
13.6
作者：
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通讯作者：
Rizzoni, G