Evidence map›Paper›PMID 39540369›Full record

ArticleRenal failure2024

Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria.

Jiaojiao Liu, Dayin Zhou, Xiaowen Wang, Tong Shen, Chunyan Wang, Rufeng Dai, Xinli Han, Lin Huang, Wenli Xu, Jing Chen and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Renal failure, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
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

15 authors.

Jiaojiao LiuDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Dayin ZhouDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xiaowen WangDepartment of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Tong ShenDepartment of Pediatrics, Xiamen Maternal and Child Health Hospital, Xiamen, China.
Chunyan WangDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Rufeng DaiDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xinli HanDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Lin HuangDepartment of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Wenli XuDepartment of Pediatrics, Xiamen Maternal and Child Health Hospital, Xiamen, China.
Jing ChenDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Yihui ZhaiDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Jia RaoDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 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, China.
Qian ShenDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Hong XuDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveHematuria is one of the most common conditions in children, and increase the risk of chronic kidney disease. Persistent hematuria may be the earliest manifestation of type IV collagen-related nephropathy. Early diagnosis is essential for optimized therapy. Due to the invasive nature of kidney biopsy and the high cost of whole exome sequencing, its application in the diagnosis of isolated hematuria is rare. Hence, we performed noninvasive and convenient genetic testing approaches for type IV collagen-related nephropathy.

methodsWe used noninvasive oral mucosa sampling as an alternative method for DNA isolation for genetic testing and designed a panel targeting three type IV collagen nephropathy-related genes in children with hematuria. Children with persistent hematuria unaccompanied by clinically significant proteinuria or renal insufficiency who underwent genetic testing using a hematuria panel were enrolled.

resultsThirty-seven of 112 (33.0%) patients were found to have a genetic variant in

conclusionsWe present the high prevalence of variants in

Indexed as

Collagen Type IVGenetic TestingHematuriaMouth MucosaAdolescentAutoantigensChildChild, PreschoolFemaleHumansMaleAutoantigensCOL4A4 protein, humanCOL4A5 protein, humanCollagen Type IVtype IV collagen alpha3 chaingenetic testingHematuriapediatrictype IV collagen-related nephropathy

Identifiers

PMID39540369
PMCPMC11565656

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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.