Evidence map›Paper›PMID 23321566›Full record

ReviewNature reviews. Nephrology2013

Genetic testing in nephrotic syndrome--challenges and opportunities.

Rasheed A Gbadegesin, Michelle P Winn, William E Smoyer

Open access · greenAbstract readReview
In one paragraph

Review in Nature reviews. Nephrology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
2.8field-weighted citation impact, top 10% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

38 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.

  1. Guideline
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  6. Article
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  15. Review
  16. Review
  17. Treatment of steroid-resistant nephrotic syndrome in the genomic era.Pediatric nephrology (Berlin, Germany) · 2019
    Review
  18. Article
  19. Review
  20. Genetic Basis of Health Disparity in Childhood Nephrotic Syndrome.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 3 institutions in 1 country.

Rasheed A GbadegesinDepartment of Pediatrics and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.
Michelle P Winn
William E Smoyer
Center for Human Genetics · USDuke Medical Center · USNationwide Children's Hospital · US

Funding

Gene Discovery in Autosomal Dominant Focal Segmental GlomerulosclerosisR01DK094987 · NIDDK · DUKE UNIVERSITY · PI GBADEGESIN, RASHEED ADEBAYO · 2012 to 2016
$2.5M
A New Locus for Hereditary FSGS on Chromosome 2pK08DK082495 · NIDDK · DUKE UNIVERSITY · PI GBADEGESIN, RASHEED ADEBAYO · 2009 to 2013
$665k
NIDDK NIH HHS K08 DK082495NIDDK NIH HHS R01 DK094987
6 · The paper itself

Abstract

Monogenic nephrotic syndrome (nephrotic syndrome caused by a single gene defect) is responsible for only a small percentage of cases of nephrotic syndrome, but information from studies of the unique cohort of patients with this form of the disease has dramatically improved our understanding of the disease pathogenesis. The use of genetic testing in the management of children and adults with nephrotic syndrome poses unique challenges for clinicians in terms of who to test and how to use the information obtained from testing in the clinical setting. In our view, not enough data exist at present to justify the routine genetic testing of all patients with nephrotic syndrome. Testing is warranted, however, in patients with congenital nephrotic syndrome (onset at 0-3 months), infantile nephrotic syndrome (onset at 3-12 months), a family history of nephrotic syndrome, and those in whom nephrotic syndrome is associated with other congenital malformations. The family and/or the patient should be given complete and unbiased information on the potential benefits and risks associated with therapy, including the reported outcomes of treatment in patients with similar mutations. Based on the data available in the literature so far, intensive immunosuppressive treatment is probably not indicated in monogenic nephrotic syndrome if complete or partial remission has not been achieved within 6 weeks of starting treatment. We advocate that family members of individuals with genetic forms of nephrotic syndrome undergo routine genetic testing prior to living-related kidney transplantation. Prospective, multicentre studies are needed to more completely determine the burden of disease caused by monogenic nephrotic syndrome, and randomized controlled trials are needed to clarify the presence or absence of clinical responses of monogenic nephrotic syndrome to available therapies.

Indexed as

Genetic TestingAdultChildHumansInsurance CoverageKidney TransplantationNephrotic Syndrome

Identifiers

PMID23321566
PMCPMC3702380
OpenAlexW2019961188

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.