Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

Genes - 2 Aug 2024

Christodoulaki Vasileia, Kosma Konstantina, Marinakis Nikolaos M, Tilemis Faidon-Nikolaos, Stergiou Nikolaos, Kampouraki Afroditi, Kapogiannis Charalampos, Karava Vasiliki, Mitsioni Andromachi, Mila Maria, Kanaka-Gantenbein Christina, Makrythanasis Periklis, Tzetis Maria, Traeger-Synodinos Joanne

Abstract excerpt

Alport syndrome (AS) is a hereditary glomerulopathy due to pathogenic variants in COL4A3, COL4A4, and COL4A5. Treatment with Renin-Angiotensin-Aldosterone System (RAAS) inhibitors can delay progression to end stage renal disease (ESRD). From 2018 until today, we performed Whole Exome Sequencing (WES) in 19 patients with AS phenotype with or without positive family history. Fourteen of these patients were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Nephritis, Hereditary
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type IV

Share to Early Diagnosis

Share to Exome Sequencing

Share to Genetic Testing

Share to Infant

Share to Kidney Failure, Chronic

Source

Open in PubMed Open full text

Identifiers

PMID: 39202375
DOI: 10.3390/genes15081016
PMCID: PMC11353900

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.PMID 39202375Read ↗

Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre ExperienceSemantic proximity Read ↗

COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.Semantic proximity Read ↗

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.Semantic proximity Read ↗

Alport Syndrome: Achieving Early Diagnosis and Treatment.Semantic proximity Read ↗

Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.Semantic proximity Read ↗

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

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

Identification of Novel COL4A5 Variants and Prenatal Diagnosis in Three Large FamiliesSemantic proximity Read ↗

Genetic testing and glomerular hematuria-A nephrologist's perspective.Semantic proximity Read ↗

Spectrum of Alport syndrome in an Indian cohort.Semantic proximity Read ↗

Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.