肾病综合征：激素抵抗型肾病综合征的基因筛查 - Suppr

Nephrotic syndrome: Genetic screening in steroid-resistant nephrotic syndrome.

作者信息

Mak Robert H, Smoyer William E

机构信息

Division of Pediatric Nephrology, Rady Children's Hospital, University of California, San Diego, 9500 Gilman Drive, MC 0634, La Jolla, CA 92093, USA.

出版信息

Nat Rev Nephrol. 2013 Jul;9(7):379-81. doi: 10.1038/nrneph.2013.101. Epub 2013 May 21.

DOI:10.1038/nrneph.2013.101

PMID:23689120

Abstract

摘要

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Nephrotic syndrome: Genetic screening in steroid-resistant nephrotic syndrome.

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本文引用的文献

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

Kidney Int. 2013 Jul;84(1):206-13. doi: 10.1038/ki.2013.93. Epub 2013 Mar 20.

Genetic testing in nephrotic syndrome--challenges and opportunities.

Nat Rev Nephrol. 2013 Mar;9(3):179-84. doi: 10.1038/nrneph.2012.286. Epub 2013 Jan 15.

MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

N Engl J Med. 2011 Jul 28;365(4):295-306. doi: 10.1056/NEJMoa1101273. Epub 2011 Jul 14.

Disruption of PTPRO causes childhood-onset nephrotic syndrome.

Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30.

The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.

Eur J Pediatr. 2011 Nov;170(11):1377-83. doi: 10.1007/s00431-011-1397-6. Epub 2011 Feb 8.

Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

Science. 2010 Aug 13;329(5993):841-5. doi: 10.1126/science.1193032. Epub 2010 Jul 15.

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Nat Genet. 2010 Jan;42(1):72-6. doi: 10.1038/ng.505. Epub 2009 Dec 20.

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.

Pediatr Nephrol. 2006 Oct;21(10):1393-8. doi: 10.1007/s00467-006-0225-0. Epub 2006 Aug 15.

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

J Am Soc Nephrol. 2004 Mar;15(3):722-32. doi: 10.1097/01.asn.0000113552.59155.72.

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Nat Genet. 2000 Apr;24(4):349-54. doi: 10.1038/74166.

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Nephrotic syndrome: Genetic screening in steroid-resistant nephrotic syndrome.

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