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Article

First patient diagnosed with lipoprotein glomerulopathy and Alport syndrome.

Nephrology (Carlton, Vic.) - 1 Dec 2024

Yang Lianlian, Yang Guang, Guo Hui

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39328028
DOI: 10.1111/nep.14399
PMCID: PMC13546937

Genes

APOE
COL4A4
COL4A3
COL4A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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First patient diagnosed with lipoprotein glomerulopathy and Alport syndrome.PMID 39328028Read ↗

Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variantsSemantic proximity Read ↗

Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.Semantic proximity Read ↗

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.Semantic proximity Read ↗

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.Semantic proximity Read ↗

Five novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndromeSemantic proximity Read ↗

Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series.Semantic proximity Read ↗

Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.Semantic proximity Read ↗

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport SyndromeSemantic proximity Read ↗

Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane.Semantic proximity Read ↗

Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.Semantic proximity Read ↗

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?Semantic proximity Read ↗

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.Semantic proximity Read ↗

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