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

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Khalid IsmailiMichelle Hall

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....Continue Reading

References

Jan 1, 1987·American Journal of Medical Genetics. Supplement·A V MoorthyM Lubinsky
Dec 17, 1997·Nature Genetics·S BarbauxK McElreavey
Oct 3, 1999·Journal of the American Society of Nephrology : JASN·L DemmerK McElreavey
Jan 24, 2002·Journal of the American Society of Nephrology : JASN·Stephanie M KarleArno Fuchshuber
Feb 24, 2004·Journal of the American Society of Nephrology : JASN·Patrick Niaudet
Jan 7, 2006·Journal of the American Society of Nephrology : JASN·Michelle P WinnJohn P Middleton
Aug 16, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Filippo AucellaGian Marco Ghiggeri
Aug 24, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Patrick Niaudet, Marie-Claire Gubler
Sep 14, 2006·Proceedings of the National Academy of Sciences of the United States of America·Ivo QuackLorenz Sellin
Oct 24, 2006·The Journal of Biological Chemistry·Gang LiuSumant S Chugh
Jan 27, 2007·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·Wei SuChuan-Ming Hao
Aug 24, 2007·Kidney International·M M LöwikL P van den Heuvel
Sep 28, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Afig BerdeliNilgun Cakar
Oct 31, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Hannu Jalanko
Feb 14, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Bernward G Hinkes

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Citations

Mar 25, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Geneviève BenoitCorinne Antignac
May 29, 2010·Journal of the American Society of Nephrology : JASN·Eduardo MachucaCorinne Antignac
Dec 3, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ibtihel Benhaj MbarekCorinne Antignac
Sep 17, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Michelle N RheaultWilliam E Smoyer
Aug 18, 2010·Pediatric Radiology·E Fred AvniMichelle Hall
Oct 26, 2010·Annals of the New York Academy of Sciences·Geneviève BenoitCorinne Antignac
Oct 21, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Tuula HölttäJaap W Groothoff
Nov 29, 2017·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rebecca PrestonRachel Lennon
Jul 30, 2011·Pharmacogenetics and Genomics·Yuvaraj SrinivasanHitoshi Zembutsu
Dec 7, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Fatima TokhmafshanPaul R Goodyer
Apr 11, 2017·Case Reports in Genetics·Thi Kim Lien NguyenHuy Hoang Nguyen
May 23, 2017·International Journal of Nephrology·Shatha Hussain AliBan A Abdulmajeed
Mar 30, 2018·Frontiers in Medicine·Onur Cil, Farzana Perwad

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