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Genetic forms of nephrotic syndrome: a single-center experience in Brussels

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An Erratum to this article was published on 01 February 2009

Abstract

The aim of the study was to present our experience in treating children with genetic forms of nephrotic syndrome and diagnosing these diseases. We retrospectively reviewed the clinical data, mutational analyses, histopathological features, treatment modalities, and outcome of 26 consecutive children (20 families) suffering from congenital and/or steroid-resistant nephrotic syndrome who were assessed by genetic analysis. Ten out of 26 children (38%) had congenital nephrotic syndrome, 4/26 (15%) had infantile nephrotic syndrome, 10/26 (38%) had late-onset nephrotic syndrome, and 2/26 (9%) had asymptomatic proteinuria. We detected a mutation in 21/26 (81%) patients and in 15/20 (75%) families. NPHS1 mutation analyses were positive in 4/20 (20%), NPHS2 mutations in 4/20 (20%), WT1 mutations in 4/20 (20%), and PLCE1 mutations in 3/20 (15%) families. NPHS1 and PLCE1 mutations were solely found in patients with the earliest onset. The majority of patients, especially those with early onset of nephrotic syndrome, had serious adverse events related to the nephrotic status, and 19/26 (73%) reached end-stage renal failure at a median age of 27 months. Genetic forms of nephrotic syndrome comprise a heterogeneous group of genetic mutations. The progression toward end-stage renal failure is the rule but is highly variable between patients.

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Acknowledgments

We would like to thank Corinne Antignac and Karin Dahan for their precious help.

Author information

Authors and Affiliations

  1. Department of Pediatric Nephrology, Hôpital Universitaire des Enfants – Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium

    Khalid Ismaili, Françoise Janssen & Michelle Hall

  2. Department of Nephrology, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium

    Karl Martin Wissing

  3. Department of Perinatal and Pediatric Nephrology, Hôpital Universitaire des Enfants – Reine Fabiola, 15, Avenue J.J. Crocq, 1020, Brussels, Belgium

    Khalid Ismaili

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  1. Khalid Ismaili
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  2. Karl Martin Wissing
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  4. Michelle Hall
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Correspondence to Khalid Ismaili.

Additional information

Other participating authors are listed in the appendix.

An erratum to this article can be found at https://doi.org/10.1007/s00467-008-1028-2

Appendix

Appendix

Other participants to the study were as follows: from the Hôpital Universitaire des Enfants - Reine Fabiola (Brussels): Brigitte Adams, MD, Ksenija Lolin, MD, Nathalie Godefroid, MD, Thierry Schurmans, MD (Department of Pediatric Nephrology); Kaat Vandenhoute (Department of Pathology); Yves Sznajer, MD (Department of Genetics), Valérie Crijns, MD (Department of Pediatrics). From the Hôpital Erasme (Brussels): Fred Avni, PhD (Department of Radiology); Marc Abramowicz, PhD (Department of Genetics); Danièle Vermeylen (Department of Neonatology).

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Ismaili, K., Wissing, K.M., Janssen, F. et al. Genetic forms of nephrotic syndrome: a single-center experience in Brussels. Pediatr Nephrol 24, 287–294 (2009). https://doi.org/10.1007/s00467-008-0953-4

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  • DOI: https://doi.org/10.1007/s00467-008-0953-4

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