2007 JASN IMPACT FACTOR 7.111	HOME   AUTHOR INFO   EDITORIAL BOARD   SUBSCRIBE   FEEDBACK   ALERTS   HELP
advanced	CURRENT ISSUE	ARCHIVES	JASN Express	ONLINE SUBMISSION

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by FUCHSHUBER, A. Articles by HILDEBRANDT, F. Search for Related Content PubMed PubMed Citation Articles by FUCHSHUBER, A. Articles by HILDEBRANDT, F.

Clinical and Genetic Evaluation of Familial Steroid-Responsive Nephrotic Syndrome in Childhood

ARNO FUCHSHUBER^*, OLIVIER GRIBOUVAL, VERA RONNER^*, SABINE KROISS^*, STEPHANIE KARLE^*, MATTHIAS BRANDIS^*, FRIEDHELM HILDEBRANDT^* and the APN Study Group

^* University Children's Hospital, Freiburg, Germany
INSERM U423, Hôpital Necker—Enfants Malades, Paris, France.

Correspondence to Dr. Arno Fuchshuber, University Children's Hospital, Mathildenstrasse 1, 79106 Freiburg, Germany. Phone: 49-761-270-4301; Fax: 49-761-270-4533; E-mail: fuchshub{at}kk1200.ukl.uni-freiburg.de

Abstract

Abstract. Steroid-responsive idiopathic nephrotic syndrome (SSINS) is the most common form of nephrotic syndrome in childhood. This article reports a cohort of familial SSINS with disease onset in childhood. The clinical course in terms of age at onset, symptoms during the initial phase, renal morphology, and outcome was evaluated. Furthermore, linkage to NPHS2, the gene for autosomal-recessive steroid-resistant INS on chromosome 1, was examined. Two families with haplotypes consistent with linkage to NPHS2 were evaluated for mutations in the NPHS2 gene. Familial SSINS (32 patients from 15 families, minimal change NS in 12 of 12 biopsies) was found to be a clinically homogeneous entity. Interfamilial and intrafamilial variability with respect to the age at disease onset was low, indicating a strong genetic influence on disease onset. By linkage studies and mutational analysis, familial SSINS was found to be genetically distinct from NPHS2. This is the first report of a large cohort of familial SSINS. Exclusion of linkage to NPHS2 makes likely the existence of a distinct gene locus for SSINS.

This article has been cited by other articles:

				J. Ratelade, T. A. Lavin, A. O. Muda, L. Morisset, G. Mollet, O. Boyer, D. S. Chen, A. Henger, M. Kretzler, N. Hubner, et al. Maternal Environment Interacts with Modifier Genes to Influence Progression of Nephrotic Syndrome J. Am. Soc. Nephrol., August 1, 2008; 19(8): 1491 - 1499. [Abstract] [Full Text] [PDF]

				I. S. D. Roberts and J. M. Gleadle Familial Nephropathy and Multiple Exostoses With Exostosin-1 (EXT1) Gene Mutation J. Am. Soc. Nephrol., March 1, 2008; 19(3): 450 - 453. [Abstract] [Full Text] [PDF]

				L. M. McKenzie, S. L. Hendrickson, W. A. Briggs, R. A. Dart, S. M. Korbet, M. H. Mokrzycki, P. L. Kimmel, T. S. Ahuja, J. S. Berns, E. E. Simon, et al. NPHS2 Variation in Sporadic Focal Segmental Glomerulosclerosis J. Am. Soc. Nephrol., November 1, 2007; 18(11): 2987 - 2995. [Abstract] [Full Text] [PDF]

				N. He, A. Zahirieh, Y. Mei, B. Lee, S. Senthilnathan, B. Wong, B. Mucha, F. Hildebrandt, D. E. Cole, D. Cattran, et al. Recessive NPHS2 (Podocin) Mutations Are Rare in Adult-Onset Idiopathic Focal Segmental Glomerulosclerosis Clin. J. Am. Soc. Nephrol., January 1, 2007; 2(1): 31 - 37. [Abstract] [Full Text] [PDF]

				R. G. Ruf, A. Lichtenberger, S. M. Karle, J. P. Haas, F. E. Anacleto, M. Schultheiss, I. Zalewski, A. Imm, E.-M. Ruf, B. Mucha, et al. Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome J. Am. Soc. Nephrol., March 1, 2004; 15(3): 722 - 732. [Abstract] [Full Text] [PDF]

				R. G. Ruf, A. Fuchshuber, S. M. Karle, A. Lemainque, K. Huck, T. Wienker, E. Otto, and F. Hildebrandt Identification of the First Gene Locus (SSNS1) for Steroid-Sensitive Nephrotic Syndrome on Chromosome 2p J. Am. Soc. Nephrol., July 1, 2003; 14(7): 1897 - 1900. [Abstract] [Full Text] [PDF]

				R. G. Ruf, M. T. F. Wolf, H. C. Hennies, B. Lucke, C. Zinn, V. Varnholt, A. Lichtenberger, A. Pasch, A. Imm, S. Briese, et al. A Gene Locus for Steroid-Resistant Nephrotic Syndrome with Deafness Maps to Chromosome 14q24.2 J. Am. Soc. Nephrol., June 1, 2003; 14(6): 1519 - 1522. [Abstract] [Full Text] [PDF]

				M. R. Pollak Inherited Podocytopathies: FSGS and Nephrotic Syndrome from a Genetic Viewpoint J. Am. Soc. Nephrol., December 1, 2002; 13(12): 3016 - 3023. [Full Text] [PDF]

				A. Koziell, V. Grech, S. Hussain, G. Lee, U. Lenkkeri, K. Tryggvason, and P. Scambler Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration Hum. Mol. Genet., February 1, 2002; 11(4): 379 - 388. [Abstract] [Full Text] [PDF]

				S. M. Karle, B. Uetz, V. Ronner, L. Glaeser, F. Hildebrandt, and A. Fuchshuber Novel Mutations in NPHS2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome J. Am. Soc. Nephrol., February 1, 2002; 13(2): 388 - 393. [Abstract] [Full Text] [PDF]

				M. P. Winn Not All in the Family: Mutations of Podocin in Sporadic Steroid-Resistant Nephrotic Syndrome J. Am. Soc. Nephrol., February 1, 2002; 13(2): 577 - 579. [Full Text] [PDF]

Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673