Evidence map›Paper›PMID 34031707›Full record

ArticlePediatric nephrology (Berlin, Germany)2021

Diagnostic and clinical utility of genetic testing in children with kidney failure.

Jing Chen, Fang Lin, Yihui Zhai, Chunyan Wang, Bingbing Wu, Duan Ma, Jia Rao, Jiaojiao Liu, Jialu Liu, Minghui Yu and 2 more

Abstract read
PubMed Publisher
In one paragraph

Article in Pediatric nephrology (Berlin, Germany), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

11 citing papers in PubMed, 17 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

12 authors at 2 institutions in 1 country.

Jing Chen *Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Fang Lin *Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Yihui Zhai *Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Chunyan WangDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Bingbing WuClinical Genetic Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Duan MaKey Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Jia RaoDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Jiaojiao LiuDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Jialu LiuDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Minghui YuDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Qian ShenDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. shenqian@shmu.edu.cn.ORCID 0000-0003-3056-6737
Hong XuDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. hxu@shmu.edu.cn.
Children's Hospital of Fudan University · CNFudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic kidney disease is well established as an important cause of pediatric kidney failure, and genetic testing might increase diagnostic accuracy, but evidence is limited. This study was conducted to determine the diagnostic yield and clinical impact of genetic testing for children with kidney failure.

methodsPatients who were diagnosed with kidney failure before 19 years of age at Children's Hospital of Fudan University from 2009 to 2018 and received next-generation sequencing (NGS) were enrolled. The results for likely pathogenic variants in genes known to cause chronic kidney disease (CKD) were analyzed.

resultsA molecular diagnosis was identified in 39.9% (75/188) of children with kidney failure. Specific subtype of clinical category was discerned in 54 (72.0%) patients, kidney disease was reclassified in 7 (9.3%) patients, the unknown etiology of 5 (6.7%) patients was molecularly diagnosed, and the clinical diagnoses of the other 9 (12.0%) patients were confirmed. In addition, genetic diagnosis was considered to have contributed to clinical management, including negating the need for kidney biopsy (26/75, 34.7%), avoiding immunosuppressive therapy (24/75, 32.0%), changing surveillance (48/75, 64.0%), guiding specific treatment (21/75, 28.0%), and guiding peri-transplant management and options for kidney transplantation (12/75, 16.0%). Furthermore, cascade testing was subsequently offered to 34.7% (26/75) of families.

conclusionsGenetic testing identified a molecular diagnosis in nearly 40% of children with kidney failure. Our results confirm that in children with kidney failure, genetic testing can not only establish a specific molecular diagnosis, but has a significant impact on clinical management.

Indexed as

Genetic TestingRenal InsufficiencyChildHumansChildrenGeneGenetic testingKidney failureKidney transplantation

Identifiers

PMID34031707
OpenAlexW3165422759

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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.