Familial forms of nephrotic syndrome.
Familial forms of nephrotic syndrome.
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DOI：
10.1007/s00467-008-1051-3
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发表时间：
2010-03
期刊：
影响因子：
--
通讯作者：
Ghiggeri GM
中科院分区：
文献类型：
--
作者：
Caridi G;Trivelli A;Sanna-Cherchi S;Perfumo F;Ghiggeri GM
近年来，家族性肾病综合征相关基因的发现是肾病学的一个突破。到目前为止，已经鉴定了15个基因，并鉴定了几个新的基因座，具有发现新基因的潜力。总的来说，这些基因占肾病综合征家族形式的很大一部分，但它们也可以在10-20%的散发病例中被识别。这些进展增加了诊断和治疗潜力，但也增加了更高的复杂性，需要明确的临床，组织病理学和分子特征的定义。一般来说，遗传形式的肾病综合征对常见的治疗方法（包括类固醇和钙调磷酸酶抑制剂）具有抗性，但在少数情况下，药物反应或自发缓解表明其发病机制复杂。最后，综合征的变异可以根据相关的肾外表现来识别。在这篇教育综述中，对各种类型的家族性肾病综合征的临床、组织学和分子生物学方面进行了综述，试图确定一种合理的诊断方法。建议的模式侧重于实际和经济问题，考虑到不可能使用基因检测作为启动诊断工具。本综述的最终目的是为临床医生和遗传学家勾勒出一个诊断流程图，并产生一个合理的分子检测方案。
The recent discovery of genes involved in familial forms of nephrotic syndrome represents a break-through in nephrology. To date, 15 genes have been characterized and several new loci have been identified, with a potential for discovery of new genes. Overall, these genes account for a large fraction of familial forms of nephrotic syndrome, but they can also be recognized in 10–20% of sporadic cases. These advances increase diagnostic and therapeutic potentials, but also add higher complexity to the scenario, requiring clear definitions of clinical, histopathological and molecular signatures. In general, genetic forms of nephrotic syndrome are resistant to common therapeutic approaches (that include steroids and calcineurin inhibitors) but, in a few cases, drug response or spontaneous remission suggest a complex pathogenesis. Finally, syndromic variants can be recognized on the basis of the associated extra-renal manifestations. In this educational review, clinical, histological and molecular aspects of various forms of familial nephrotic syndrome have been reviewed in an attempt to define a rational diagnostic approach. The proposed model focuses on practical and economic issues, taking into consideration the impossibility of using genetic testing as starting diagnostic tool. The final objective of this review is to outline a diagnostic flow-chart for clinicians and geneticists and to generate a rational scheme for molecular testing.
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影响因子：
13.6
作者：
Diomedi-Camassei, Francesca;Di Giandomenico, Silvia;Emma, Francesco
通讯作者：
Emma, Francesco
影响因子：
3.9
作者：
Beltcheva, O;Martin, P;Tryggvason, K
通讯作者：
Tryggvason, K
DOI：
10.1097/01.asn.0000060578.79050.e0
发表时间：
2003-05-01
影响因子：
13.6
作者：
Caridi, G;Bertelli, R;Ghiggeri, GM
通讯作者：
Ghiggeri, GM
影响因子：
13.2
作者：
Caridi, G;Berdeli, A;Ghiggeri, GM
通讯作者：
Ghiggeri, GM
影响因子：
4
作者：
GALLOWAY W H;MOWAT A P
通讯作者：
MOWAT A P