Treatment of steroid-resistant nephrotic syndrome in the genomic era

被引：19

作者：

Bensimhon, Adam R. ^{[1
]}

Williams, Anna E. ^{[1
]}

Gbadegesin, Rasheed A. ^{[1
,2
,3
]}

机构：

[1] Duke Univ, Med Ctr, Dept Pediat, Div Nephrol, Durham, NC 27710 USA

[2] Duke Univ, Med Ctr, Dept Med, Div Nephrol, Durham, NC 27710 USA

[3] Duke Mol Physiol Inst, Durham, NC 27701 USA

来源：

PEDIATRIC NEPHROLOGY | 2019年 / 34卷 / 11期

基金：

美国国家卫生研究院;

关键词：

Nephrotic syndrome; SRNS; Genetic SRNS; Treatment; FOCAL-SEGMENTAL GLOMERULOSCLEROSIS; COENZYME-Q BIOSYNTHESIS; SINGLE-GENE CAUSE; MYCOPHENOLATE-MOFETIL; CYCLOSPORINE-A; GLOMERULAR SCLEROSIS; RITUXIMAB TREATMENT; KIDNEY-DISEASE; MUTATIONS; CHILDREN;

D O I：

10.1007/s00467-018-4093-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The pathogenesis of steroid-resistant nephrotic syndrome (SRNS) is not completely known. Recent advances in genomics have elucidated some of the molecular mechanisms and pathophysiology of the disease. More than 50 monogenic causes of SRNS have been identified; however, these genes are responsible for only a small fraction of SRNS in outbred populations. There are currently no guidelines for genetic testing in SRNS, but evidence from the literature suggests that testing should be guided by the genetic architecture of the disease in the population. Notably, most genetic forms of SRNS do not respond to current immunosuppressive therapies; however, a small subset of patients with monogenic SRNS will achieve partial or complete remission with specific immunomodulatory agents, presumably due to non-immunosuppressive effects of these agents. We suggest a pragmatic approach to the therapy of genetic SRNS, as there is no evidence-based algorithm for the management of the disease.

引用

页码：2279 / 2293

页数：15

共 128 条

[1] Coenzyme Q biosynthesis in health and disease [J].

Acosta, Manuel Jesus ;

Fonseca, Luis Vazquez ;

Desbats, Maria Andrea ;

Cerqua, Cristina ;

Zordan, Roberta ;

Trevisson, Eva ;

Salviati, Leonardo .

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2016, 1857 (08) :1079-1085

[2]

ALLISON AC, 1993, TRANSPLANT P, V25, P67

[3] Cubilin Is Essential for Albumin Reabsorption in the Renal Proximal Tubule [J].

Amsellem, Sabine ;

Gburek, Jakub ;

Hamard, Ghislaine ;

Nielsen, Rikke ;

Willnow, Thomas E. ;

Devuyst, Olivier ;

Nexo, Ebba ;

Verroust, Pierre J. ;

Christensen, Erik I. ;

Kozyraki, Renata .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2010, 21 (11) :1859-1867

[4]

[Anonymous], 1981, KIDNEY INT, V20, P765

[5] THE PRIMARY NEPHROTIC SYNDROME IN CHILDREN - IDENTIFICATION OF PATIENTS WITH MINIMAL CHANGE NEPHROTIC SYNDROME FROM INITIAL RESPONSE TO PREDNISONE - A REPORT OF THE INTERNATIONAL STUDY OF KIDNEY-DISEASE IN CHILDREN [J].

不详 .

JOURNAL OF PEDIATRICS, 1981, 98 (04) :561-564

[6] Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment [J].

Ashraf, Shazia ;

Kudo, Hiroki ;

Rao, Jia ;

Kikuchi, Atsuo ;

Widmeier, Eugen ;

Lawson, Jennifer A. ;

Tan, Weizhen ;

Hermle, Tobias ;

Warejko, Jillian K. ;

Shril, Shirlee ;

Airik, Merlin ;

Jobst-Schwan, Tilman ;

Lovric, Svjetlana ;

Braun, Daniela A. ;

Gee, Heon Yung ;

Schapiro, David ;

Majmundar, Amar J. ;

Sadowski, Carolin E. ;

Pabst, Werner L. ;

Daga, Ankana ;

van der Ven, Amelie T. ;

Schmidt, Johanna M. ;

Low, Boon Chuan ;

Gupta, Anjali Bansal ;

Tripathi, Brajendra K. ;

Wong, Jenny ;

Campbell, Kirk ;

Metcalfe, Kay ;

Schanze, Denny ;

Niihori, Tetsuya ;

Kaito, Hiroshi ;

Nozu, Kandai ;

Tsukaguchi, Hiroyasu ;

Tanaka, Ryojiro ;

Hamahira, Kiyoshi ;

Kobayashi, Yasuko ;

Takizawa, Takumi ;

Funayama, Ryo ;

Nakayama, Keiko ;

Aoki, Yoko ;

Kumagai, Naonori ;

Iijima, Kazumoto ;

Fehrenbach, Henry ;

Kari, Jameela A. ;

El Desoky, Sherif ;

Jalalah, Sawsan ;

Bogdanovic, Radovan ;

Stajic, Natasa ;

Zappel, Hildegard ;

Rakhmetova, Assel .

NATURE COMMUNICATIONS, 2018, 9

[7] ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption [J].

Ashraf, Shazia ;

Gee, Heon Yung ;

Woerner, Stephanie ;

Xie, Letian X. ;

Vega-Warner, Virginia ;

Lovric, Svjetlana ;

Fang, Humphrey ;

Song, Xuewen ;

Cattran, Daniel C. ;

Avila-Casado, Carmen ;

Paterson, Andrew D. ;

Nitschke, Patrick ;

Bole-Feysot, Christine ;

Cochat, Pierre ;

Esteve-Rudd, Julian ;

Haberberger, Birgit ;

Allen, Susan J. ;

Zhou, Weibin ;

Airik, Rannar ;

Otto, Edgar A. ;

Barua, Moumita ;

Al-Hamed, Mohamed H. ;

Kari, Jameela A. ;

Evans, Jonathan ;

Bierzynska, Agnieszka ;

Saleem, Moin A. ;

Boeckenhauer, Detlef ;

Kleta, Robert ;

El Desoky, Sherif ;

Hacihamdioglu, Duygu O. ;

Gok, Faysal ;

Washburn, Joseph ;

Wiggins, Roger C. ;

Choi, Murim ;

Lifton, Richard P. ;

Levy, Shawn ;

Han, Zhe ;

Salviati, Leonardo ;

Prokisch, Holger ;

Williams, David S. ;

Pollak, Martin ;

Clarke, Catherine F. ;

Pei, York ;

Antignac, Corinne ;

Hildebrandt, Friedhelm .

JOURNAL OF CLINICAL INVESTIGATION, 2013, 123 (12) :5179-5189

[8] Enalapril dosage in steroid-resistant nephrotic syndrome [J].

Bagga, A ;

Mudigoudar, BD ;

Hari, P ;

Vasudev, V .

PEDIATRIC NEPHROLOGY, 2004, 19 (01) :45-50

[9] Rituximab in patients with the steroid-resistant nephrotic syndrome [J].

Bagga, Arvind ;

Sinha, Aditi ;

Moudgil, Asha .

NEW ENGLAND JOURNAL OF MEDICINE, 2007, 356 (26) :2751-2752

[10]

BANFI G, 1991, CLIN NEPHROL, V36, P53

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