Evidence map›Paper›PMID 39097532›Full record

ReviewPediatric nephrology (Berlin, Germany)2024

Protein-losing enteropathy as a new phenotype in atypical hemolytic uremic syndrome caused by CD46 gene mutation.

Chunyan Wang, Jing Chen, Xinli Han, Manqing Sun, Xiaoyan Fang, Yihui Zhai, Qianfan Miao, Zhiqing Zhang, Xiaoshan Tang, Jiaojiao Liu and 2 more

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Pediatric nephrology (Berlin, Germany), 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

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

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

12 authors.

Chunyan Wang *Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Jing Chen *Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Xinli HanDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Manqing SunDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Xiaoyan FangDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Yihui ZhaiDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Qianfan MiaoDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Zhiqing ZhangDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Xiaoshan TangDepartment 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.
Qian ShenDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Hong XuDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. hxu@shmu.edu.cn.ORCID 0000-0001-7617-0872

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAtypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy. Genetic defects in the alternative complement (AP) pathway have been identified in 60-70% of individuals. Eculizumab is recommended as a first-line therapy.

methodsWe collected the clinical data of a pediatric patient with aHUS accompanied by protein-losing enteropathy (PLE). Genetic testing was performed. Related literature on aHUS combined with PLE was reviewed.

resultsA 15-year-old Chinese girl was diagnosed with aHUS at 3.7 years of age and experienced five episodes; her symptoms completely resolved with plasma treatment. Severe gastrointestinal symptoms and hypoalbuminemia presented after the first episode, and PLE was diagnosed. A novel homozygous CD46 variant was identified, and FACS revealed significantly decreased CD46 expression. She presented at a recent relapse with persistent GI symptoms and headache and progressed to chronic kidney failure; peritoneal dialysis was initiated. Eculizumab was given 8 months after the last recurrence. Surprisingly, PLE was cured. Afterward, dialysis was discontinued, and eGFR recovered to 44.8 ml/min/1.73 m

conclusionsOur case expands the phenotype of aHUS caused by a CD46 mutation and provides evidence of the efficacy of eculizumab after a long phase of chronic kidney failure.

Indexed as

Antibodies, Monoclonal, HumanizedAtypical Hemolytic Uremic SyndromeMembrane Cofactor ProteinProtein-Losing EnteropathiesAdolescentComplement Inactivating AgentsFemaleHumansKidney Failure, ChronicMutationPeritoneal DialysisPhenotypeAntibodies, Monoclonal, HumanizedCD46 protein, humanComplement Inactivating AgentseculizumabMembrane Cofactor ProteinAtypical hemolytic uremic syndromeChronic kidney failureEculizumabNew phenotypeProtein-losing enteropathyRecovery

Identifiers

PMID39097532

What OpenQuestion holds

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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.