ArticleBMC nephrology2013
Two new families with hereditary minimal change disease.
Article in BMC nephrology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Molecular mechanisms in podocytopathies: finding suitable targets for a new era of glomerular gene therapy.Clinical kidney journal · 2026Review
- Detailed Pathophysiology of Minimal Change Disease: Insights into Podocyte Dysfunction, Immune Dysregulation, and Genetic Susceptibility.International journal of molecular sciences · 2024Review
- Comprehensive Review of Steroid-Sensitive Nephrotic Syndrome Genetic Risk Loci and Transcriptional Regulation as a Possible Mechanistic Link to Disease Risk.Kidney international reports · 2021Article
- Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2018Article
- The Genetics of Nephrotic Syndrome.Journal of pediatric genetics · 2016Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSteroid-sensitive idiopathic nephrotic syndrome (SSINS) is most often encountered in sporadic cases of minimal change disease (MCD). Only rare cases of familial forms of MCD have been reported and most of them only in one generation. The scarcity of data has precluded unraveling the underlying genetic defect and candidate gene approaches have been unsuccessful. Here we report two families with related SSINS cases and review the related literature. CASE PRESENTATION: Two siblings and a cousin (first family), and a father and his son (second family), are reported with SSINS due to MCD. Patients have been followed up for more than 12 years and a renal biopsy was performed in three cases, demonstrating typical features of MCD. The course of the disease was remarkable because of several relapses treated with steroids. In three cases, mycophenolate mofetil or cyclosporine was added.
conclusionFamilial SSINS due to MCD is extremely rare and no genetic defect has been identified so far. Reporting cases of hereditary MCD will allow further genetic studies which will ultimately help unravel the molecular basis of this disease.
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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.