ReviewPediatric nephrology (Berlin, Germany)2010
Familial forms of nephrotic syndrome.
Review in Pediatric nephrology (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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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.
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Who cites it
25 citing papers in PubMed.
- Rituximab in children with resistant idiopathic nephrotic syndrome.Journal of the American Society of Nephrology : JASN · 2012Trial
- Short-term effects of rituximab in children with steroid- and calcineurin-dependent nephrotic syndrome: a randomized controlled trial.Clinical journal of the American Society of Nephrology : CJASN · 2011Trial
- Nephrotic syndrome in children: A review.Medicine · 2026Review
- Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Nutritional management of pediatric nephrotic syndrome regarding oxidative stress and antioxidant balance.Frontiers in immunology · 2025Review
- Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.BMC nephrology · 2024Article
- Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?Pediatric nephrology (Berlin, Germany) · 2024Review
- Pathological and Evolutive Correlations in Steroid Resistant Nephrotic Syndrome in Children.International journal of general medicine · 2022Article
- High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.Frontiers in pediatrics · 2022Article
- Identification of Key Candidate Genes and Chemical Perturbagens in Diabetic Kidney Disease Using Integrated Bioinformatics Analysis.Frontiers in endocrinology · 2021Article
- A no-nonsense approach to hereditary kidney disease.Pediatric nephrology (Berlin, Germany) · 2020Review
- 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
- HeterozygousFrontiers in pediatrics · 2018Article
- Sorting Nexin 9 facilitates podocin endocytosis in the injured podocyte.Scientific reports · 2017Article
- Genetics of hereditary nephrotic syndrome: a clinical review.Korean journal of pediatrics · 2017Review
- Genetic testing in steroid-resistant nephrotic syndrome: when and how?Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2016Review
- Role of the glucocorticoid receptor in the recurrence of primary nephrotic syndrome.Experimental and therapeutic medicine · 2015Article
- Translating genetic findings in hereditary nephrotic syndrome: the missing loops.American journal of physiology. Renal physiology · 2015Review
- Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.Clinical kidney journal · 2014Article
- Opposing effects of podocin on the gating of podocyte TRPC6 channels evoked by membrane stretch or diacylglycerol.American journal of physiology. Cell physiology · 2013Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The recent discovery of genes involved in familial forms of nephrotic syndrome represents a break-through in nephrology. To date, 15 genes have been characterized and several new loci have been identified, with a potential for discovery of new genes. Overall, these genes account for a large fraction of familial forms of nephrotic syndrome, but they can also be recognized in 10-20% of sporadic cases. These advances increase diagnostic and therapeutic potentials, but also add higher complexity to the scenario, requiring clear definitions of clinical, histopathological and molecular signatures. In general, genetic forms of nephrotic syndrome are resistant to common therapeutic approaches (that include steroids and calcineurin inhibitors) but, in a few cases, drug response or spontaneous remission suggest a complex pathogenesis. Finally, syndromic variants can be recognized on the basis of the associated extra-renal manifestations. In this educational review, clinical, histological and molecular aspects of various forms of familial nephrotic syndrome have been reviewed in an attempt to define a rational diagnostic approach. The proposed model focuses on practical and economic issues, taking into consideration the impossibility of using genetic testing as starting diagnostic tool. The final objective of this review is to outline a diagnostic flow-chart for clinicians and geneticists and to generate a rational scheme for molecular testing.
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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.