Evidence map›Paper›PMID 39328028›Full record

ArticleNephrology (Carlton, Vic.)2024

First patient diagnosed with lipoprotein glomerulopathy and Alport syndrome.

Lianlian Yang, Guang Yang, Hui Guo

Abstract readCase Reports
In one paragraph

Article in Nephrology (Carlton, Vic.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. 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

3 authors.

Lianlian YangDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China.
Guang YangTaiyuan Kingmed Renal Pathology Diagnostic Center, Taiyuan Kingmed Center for Clinical Laboratory Co. Ltd, Taiyuan, Shanxi Province, China.
Hui GuoDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China.ORCID https://orcid.org/0000-0002-0104-5724

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alport syndrome (AS) is one of the most common inherited kidney disorders, involving pathogenic variants of COL4A3, COL4A4 and COL4A5 genes that lead to disruption of the normal structure of collagen IV protein through improper chain or heterotrimer folding or degradation of heterotrimer components. Lipoprotein glomerulopathy (LPG) is an autosomal dominant disease involving APOE gene mutations disturbing lipoprotein metabolism. We report the first case with both AS and LPG in an 11-year-old girl. The patient presented with blepharedema, and decreased vision. Laboratory examinations showed hematemesis, proteinuria, hypoproteinemia, hyperlipidemia and progressive renal failure. Renal biopsy showed the changes of LPG and AS. Whole-exome sequencing (WES) identified two pathogenic variants, c.127C > T in exon 3 of APOE gene, and c.930 + 1G > A in exon 15 of COL4A4 gene. We emphasize the importance of early completion of renal biopsy and WES for early diagnosis of LPG and AS.

Indexed as

Collagen Type IVKidney DiseasesNephritis, HereditaryApolipoproteins EBiopsyChildExome SequencingFemaleHumansMutationPhenotypeApoE protein, humanApolipoproteins ECOL4A4 protein, humanCollagen Type IVAlport syndromeAPOECOL4A4lipoprotein glomerulopathyPPARA

Identifiers

PMID39328028
PMCPMC13546937

What OpenQuestion holds

Textmetadata
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.