Evidence map›Paper›PMID 39467534›Full record

ReviewNephron2024

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Marc Henein, Felicia Russo, Zachary T Sentell, Rémi Goupil, Thomas M Kitzler

Abstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Nephron, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Marc HeneinDivision of Medical Genetics, McGill University Health Centre, Montreal, Québec, Canada, marc.henein@mail.mcgill.ca.
Felicia RussoDivision of Medical Genetics, McGill University Health Centre, Montreal, Québec, Canada.
Zachary T SentellDepartment of Human Genetics, McGill University, Montreal, Québec, Canada.
Rémi GoupilDepartment of Nephrology, Hôpital du Sacré-Cœur de Montréal, Montreal, Québec, Canada.
Thomas M KitzlerDivision of Medical Genetics, McGill University Health Centre, Montreal, Québec, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Missense variants in the PKHD1 gene are associated with the full spectrum of autosomal recessive polycystic kidney disease severity and exhibit variable expressivity. The study of clinical expressivity is limited by the extensive allelic heterogeneity within the PKHD1 gene, which encodes a 4074-amino-acid protein. We report the case of adult siblings with biallelic missense PKHD1 variants, c.4870C>T (p.Arg1624Trp) and c.8206T>G (p.Trp2736Gly), who presented with discordant phenotypes. Patient A developed progressive chronic kidney disease and Caroli syndrome in childhood requiring combined liver and kidney transplantation, while patient B remains minimally affected in the fourth decade of life with normal kidney function and signs of medullary sponge kidney on imaging. We review previously reported cases of phenotypic discordance among siblings and suggest that genotypes composed of at least one hypomorphic missense variant are more likely to lead to phenotypic discordance.

Indexed as

PhenotypePolycystic Kidney, Autosomal RecessiveAdultFemaleHumansInfantMaleMutation, MissenseReceptors, Cell SurfaceSiblingsPKHD1 protein, humanReceptors, Cell SurfaceAutosomal recessive polycystic kidney diseaseCaroli syndromeMedullary sponge kidney

Identifiers

PMID39467534
PMCPMC11651334

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Registered trials

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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.