Evidence map›Paper›PMID 38180355›Full record

ReviewPrenatal diagnosis2024

The genetic etiologies of bilateral renal agenesis.

Gregory W Kirschen, Karin Blakemore, Huda B Al-Kouatly, Gila Fridkis, Ahmet Baschat, John Gearhart, Angie C Jelin

Open access · bronzeAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Prenatal diagnosis, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
6.7field-weighted citation impact, top 4% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. 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

7 authors at 3 institutions in 1 country.

Gregory W KirschenDivision of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, The Johns Hopkins Hospital, Baltimore, Maryland, USA.ORCID 0000-0002-7155-6546
Karin BlakemoreDivision of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, The Johns Hopkins Hospital, Baltimore, Maryland, USA.ORCID 0000-0002-5419-4934
Huda B Al-KouatlyDivision of Maternal-Fetal Medicine, Jefferson Health, Philadelphia, New York, USA.
Gila FridkisPhysician Affiliate Group of New York, P.C. (PAGNY), Department of Pediatrics, Metropolitan Hospital Center, New York, New York, USA.
Ahmet BaschatDivision of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
John GearhartDepartment of Urology, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
Angie C JelinDivision of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
Johns Hopkins Hospital · USMetropolitan Hospital Center · USThomas Jefferson University Hospital · US

Funding

Single gene pathogenic variants associated with BEEC (Bladder Exstrophy, Epispadias, Complex)K23DK119949 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI JELIN, ANGIE CHILD · 2019 to 2023
$1.1M
NIDDK NIH HHS K23 DK119949NIH HHS 5K23DK119949-02
6 · The paper itself

Abstract

objectiveThe goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition.

methodsA literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs. single gene) etiologies and those described in syndromes without any known genetic etiology. The cases were further categorized as isolated versus non-isolated, describing additional findings reported prenatally, postnatally, and postmortem. Inheritance pattern was also documented when appropriate in addition to the reported timing of diagnosis and sex.

resultsWe identified six cytogenetic abnormalities and 21 genes responsible for 20 single gene disorders associated with BRA. Five genes have been reported to associate with BRA without other renal anomalies; sixteen others associate with both BRA as well as unilateral renal agenesis. Six clinically recognized syndromes/associations were identified with an unknown underlying genetic etiology. Genetic etiologies of BRA are often phenotypically expressed as other urogenital anomalies as well as complex multi-system syndromes.

conclusionMultiple genetic etiologies of BRA have been described, including cytogenetic abnormalities and monogenic syndromes. The current era of the utilization of exome and genome-wide sequencing is likely to significantly expand our understanding of the underlying genetic architecture of BRA.

Indexed as

Congenital AbnormalitiesKidney DiseasesUrogenital AbnormalitiesChromosome AberrationsFemaleHumansKidneyPregnancySyndrome

Identifiers

PMID38180355
PMCPMC10932914
OpenAlexW4390617076

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.