ReviewJournal of pediatric genetics2016
The Genetics of Nephrotic Syndrome.
Review in Journal of pediatric genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Research participants and stakeholders' views on feedback of genetic research findings: a qualitative study of the H3Africa Kidney Disease Research Network in Ghana.BMC nephrology · 2025Article
- Roles of myosin 1e and the actin cytoskeleton in kidney functions and familial kidney disease.Cytoskeleton (Hoboken, N.J.) · 2024Review
- Exome Sequencing Revealed a Novel Splice Site Variant in theMedicina (Kaunas, Lithuania) · 2022Article
- Defining diagnostic trajectories in patients with podocytopathies.Clinical kidney journal · 2022Review
- A zebrafish model of congenital nephrotic syndrome of the Finnish type.Frontiers in cell and developmental biology · 2022Article
- High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.Frontiers in pediatrics · 2022Article
- Editorial: Nephrotic Syndrome in Children.Frontiers in pediatrics · 2021Article
- Graft immaturity and safety concerns in transplanted human kidney organoids.Experimental & molecular medicine · 2019Article
- The Search for Biomarkers to Aid in Diagnosis, Differentiation, and Prognosis of Childhood Idiopathic Nephrotic Syndrome.Frontiers in pediatrics · 2019Review
- Prospects of genetic testing for steroid-resistant nephrotic syndrome in Nigerian children: a narrative review of challenges and opportunities.International journal of nephrology and renovascular disease · 2019Review
- Prevalence rates of histopathologic subtypes associated with steroid resistance in childhood nephrotic syndrome in Sub-Saharan Africa: a systematic review.International journal of nephrology and renovascular disease · 2019Article
- Hematuria and Proteinuria in Children.Pediatrics in review · 2018Review
- Genetic Basis of Health Disparity in Childhood Nephrotic Syndrome.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018Review
- Activation of podocyte Notch mediates early Wt1 glomerulopathy.Kidney international · 2018Article
- Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.Clinical kidney journal · 2018Article
- Proteinuric Kidney Diseases: A Podocyte's Slit Diaphragm and Cytoskeleton Approach.Frontiers in medicine · 2018Review
- Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population.Frontiers in pediatrics · 2018Article
- Monogenic Causes of Proteinuria in Children.Frontiers in medicine · 2018Review
- Genetics of childhood steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Nephrotic syndrome (NS) is a common pediatric kidney disease and is defined as massive proteinuria, hypoalbuminemia, and edema. Dysfunction of the glomerular filtration barrier, which is made up of endothelial cells, glomerular basement membrane, and visceral epithelial cells known as podocytes, is evident in children with NS. While most children have steroid-responsive nephrotic syndrome (SSNS), approximately 20% have steroid-resistant nephrotic syndrome (SRNS) and are at risk for progressive kidney dysfunction. While the cause of SSNS is still not well understood, there has been an explosion of research into the genetic causes of SRNS in the past 15 years. More than 30 proteins regulating the function of the glomerular filtration barrier have been associated with SRNS including podocyte slit diaphragm proteins, podocyte actin cytoskeletal proteins, mitochondrial proteins, adhesion and glomerular basement membrane proteins, transcription factors, and others. A genetic cause of SRNS can be found in approximately 70% of infants presenting in the first 3 months of life and 50% of infants presenting between 4 and 12 months, with much lower likelihood for older patients. Identification of the underlying genetic etiology of SRNS is important in children because it allows for counseling of other family members who may be at risk, predicts risk of recurrent disease after kidney transplant, and predicts response to immunosuppressive therapy. Correlations between genetic mutation and clinical phenotype as well as genetic risk factors for SSNS and SRNS are reviewed in this article.
Indexed as
Identifiers
What OpenQuestion holds
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.