ArticlePediatric nephrology (Berlin, Germany)2009
Genetic forms of nephrotic syndrome: a single-center experience in Brussels.
Article in Pediatric nephrology (Berlin, Germany), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Podocin oligomers regulate the ordering of nephrin chains, providing the molecular basis ofProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Congenital nephrotic syndrome.Journal of perinatology : official journal of the California Perinatal Association · 2021Review
- Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome.Kidney international reports · 2021Article
- Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.Journal of human genetics · 2021Article
- A no-nonsense approach to hereditary kidney disease.Pediatric nephrology (Berlin, Germany) · 2020Review
- A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.BMC medical genetics · 2019Article
- The Role of p.Ser1105Ser (inMedicina (Kaunas, Lithuania) · 2019Article
- Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Pediatric nephrology (Berlin, Germany) · 2019Review
- Monogenic Causes of Proteinuria in Children.Frontiers in medicine · 2018Review
- Three Novel Mutations in theCase reports in genetics · 2017Article
- R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome.International journal of nephrology · 2017Article
- Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry.Pediatric nephrology (Berlin, Germany) · 2016Article
- Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.Nature genetics · 2014Article
- Increasing frequency of acute kidney injury amongst children hospitalized with nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2014Article
- Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.Pediatric nephrology (Berlin, Germany) · 2011Article
- Update on congenital nephrotic syndromes and the contribution of US.Pediatric radiology · 2011Review
- Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.Pediatric nephrology (Berlin, Germany) · 2010Review
- Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.Journal of the American Society of Nephrology : JASN · 2010Article
Corrections and comments
- Erratum issuedPawtowski, Audrey [added]; Boyer, Olivia [added]
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.