Evidence map›Paper›PMID 20219616›Full record

ReviewAdvances in chronic kidney disease2010

Determinants of renal disease variability in ADPKD.

Peter C Harris, Sandro Rossetti

Open access · bronzeAbstract readReview
In one paragraph

Review in Advances in chronic kidney disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
3.0field-weighted citation impact, top 8% 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

42 citing papers in PubMed, 82 citations in OpenAlex.

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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

2 authors at 2 institutions in 1 country.

Peter C HarrisMayo Clinic, Rochester, MN 55905, USA. harris.peter@mayo.edu
Sandro Rossetti
Mayo Clinic · USMayo Clinic in Arizona · US

Funding

Pilot and FeasibilityP30DK090728 · NIDDK · MAYO CLINIC ROCHESTER · PI ROMERO, MICHAEL F. · 2010 to 2019
$11.8M
ADPKD:Disease Spectrum &Genotype-Phenotype CorrelationsR01DK058816 · NIDDK · MAYO CLINIC ROCHESTER · PI Peter C. Harris · 2001 to 2026
$11.3M
NIDDK NIH HHS P30 DK090728NIDDK NIH HHS R01 DK058816
6 · The paper itself

Abstract

In common with other Mendelian diseases, the presentation and progression of autosomal dominant polycystic kidney disease (ADPKD) vary widely in the population. The typical course is of adult-onset disease with ESRD in the 6th decade. However, a small proportion has adequate renal function into the 9th decade, whereas others present with enlarged kidneys as neonates. ADPKD is genetically heterogeneous, and the disease gene is a major determinant of severity; PKD1 on average is associated with ESRD 20 years earlier than PKD2. The majority of PKD1 and PKD2 mutations are likely fully inactivating although recent studies indicate that some alleles retain partial activity (hypomorphic alleles). Homozygotes for such alleles are viable and in combination with an inactivating allele can result in early-onset disease. Hypomorphic alleles and mosaicism may also account for some cases with unusually mild disease. The degree of phenotypic variation detected in families indicates that genetic background influences disease severity. Genome-wide association studies are planned to map common variants associated with severity. Although ADPKD is a simple genetic disease, fully understanding the phenotypic variability requires consideration of influences at the genic, allelic, and genetic background level, and so, ultimately, it is complex.

Indexed as

Polycystic Kidney, Autosomal DominantSeverity of Illness IndexAnimalsHumansKidneyPhenotypeTRPP Cation ChannelsTRPP Cation Channels

Identifiers

PMID20219616
PMCPMC2837603
OpenAlexW1991634527

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.