NDT Advance Access originally published online on September 12, 2006
Nephrology Dialysis Transplantation 2006 21(11):3133-3138; doi:10.1093/ndt/gfl347
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© The Author [2006]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome
1Department of Pediatrics and 2Department of Clinical Biology and Medicine, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, 3Department of Nephrology, National Center for Child Health and Development, Tokyo, 4Department of Molecular Epidemiology, Tokyo Medical and Dental University, Tokyo, 5Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, 6Department of Pediatric Nephrology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, 7Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, 8Department of Pediatrics, Kumamoto University School of Medicine, Kumamoto and 9Department of Pediatrics, Wakayama Medical University, Wakayama, Japan and 10Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea
Correspondence and offprint requests to: Hiroyasu Tsukaguchi, Department of Clinical Biology and Medicine, Institute of Health Biosciences, The University of Tokushima Graduate School, 3-18-15 Kuramoto, Tokushima 770-8503, Japan. Email: hiroyasu@clin.med.tokushima-u.ac.jp Kazumoto Iijima, Department of Nephrology, National Children's Medical Center, National Center for Child Health and Development, 10.1, Okura 2chome, Setagaya-ku, Tokyo 157-8535, Japan. Email: iijima-k@ncchd.go.jp
Keywords: FSGS; linkage; mutation; nephrotic syndrome; podocyte
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Introduction |
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Steroid-resistant nephrotic syndrome (SRNS) represents a clinically heterogeneous group that is resistant to immunosuppressive therapy and tends to progress to end-stage renal disease (ESRD) within 10 years. The most prevalent renal histology is a focal segmental glomerulosclerosis (FSGS), which is the principal cause of ESRD and accounts for 20 and 5% of all the cases of renal failure, in children and adults, respectively. The clinical hallmarks are sharply contrasted with those of the most common ‘steroid-sensitive’ nephrotic syndrome, which displays responses to steroid therapy. The patients with this steroid-sensitive type have usually minimal histological changes (minimal change nephrotic syndrome, MCNS) and have a favourable long-term outcome. In comparison with MCNS, FSGS is a disease with substantial morbidity, and elucidation of the pathogenesis has been, therefore, a focus of research efforts.
Over the past decade, researchers have attempted to identify the genetic components in a monogenic variant of familial SRNS. Nephrotic
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Subjects and methods |
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Phenotype characterization
Genotyping and linkage analysis
Mutational analysis
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Results |
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Clinical phenotype of SRNS families
Linkage analysis for the candidate genes
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Discussion |
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