Evidence map›Paper›PMID 20382325›Full record

ReviewLancet (London, England)2010

Genetic kidney diseases.

Friedhelm Hildebrandt

Open access · greenAbstract readReview
In one paragraph

Review in Lancet (London, England), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 163 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
163citing papers in PubMed, 1 pooled it
6.2field-weighted citation impact, top 3% 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

163 citing papers in PubMed, 1 synthesis or guideline pooled it, 306 citations in OpenAlex.

  1. Pooled it
  2. Rituximab in steroid-dependent or frequently relapsing idiopathic nephrotic syndrome.Journal of the American Society of Nephrology : JASN · 2014
    Trial
  3. Article
  4. Review
  5. Article
  6. Review
  7. Review
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Kidney disease and reproductive health.Nature reviews. Nephrology · 2025
    Review
  17. Comparative analysis ofbioRxiv : the preprint server for biology · 2025
    Article
  18. Article
  19. Review
  20. Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.Clinical journal of the American Society of Nephrology : CJASN · 2025
    Article

103 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Friedhelm HildebrandtHoward Hughes Medical Institute and Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA. fhilde@umich.edu
Howard Hughes Medical Institute · US

Funding

Novel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6M
Identification and function of new genes causing childhood nephrotic syndromeR01DK076683 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2007 to 2021
$5.3M
Functional characterization of the gene NPHP4R01DK064614 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2007
$1.3M
Exon capture and large-scale sequencing for disease-cause identification, early dRC1DK086542 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2009 to 2010
$981k
Howard Hughes Medical InstituteNIDDK NIH HHS DK045345NIDDK NIH HHS DK064614NIDDK NIH HHS DK076683NIDDK NIH HHS DK1068306NIDDK NIH HHS DK1069274NIDDK NIH HHS R01 DK064614NIDDK NIH HHS R01 DK068306NIDDK NIH HHS R01 DK076683NIDDK NIH HHS RC1 DK086542NIDDK NIH HHS RC1-DK086542
6 · The paper itself

Abstract

Knowledge of the primary cause of a disease is essential for elucidation of its mechanisms, and for adequate classification, prognosis, and treatment. Recently, the causes of many kidney diseases have been shown to be single-gene defects-eg, steroid-resistant nephrotic syndrome, which is caused by podocin mutations in about 25% of children and nearly 15% of adults with the disease. Knowledge of a disease-causing mutation in a single-gene disorder represents one of the most robust diagnostic examples of personalised medicine because the mutation conveys an almost 100% risk of developing the disease by a defined age. Whereas single-gene diseases are rare disorders, polygenic risk alleles arise in common adult-onset diseases. In this Review, I will discuss prominent renal single-gene kidney disorders, and polygenic risk alleles of common disorders. I delineate how emerging techniques of total exome capture and large-scale sequencing will assist molecular genetic diagnosis, prognosis, and specific treatment, and lead to an improved elucidation of disease mechanisms, thus enabling development of new targeted drugs.

Indexed as

HumansKidneyKidney DiseasesMutationUrinary Tract

Identifiers

PMID20382325
PMCPMC2898711
OpenAlexW2043618828

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.