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

An unusual case of nephrotic syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2024

Wildes Dermot Michael, Fitzsimons Aisling, Doyle Brendan, Green Andrew, Sweeney Clodagh, Awan Atif

Abstract excerpt

BACKGROUND: Alport syndrome is a genetically heterogenous disorder resulting from variants in genes coding for alpha-3/4/5 chains of Collagen IV, which results in defective basement membranes in the kidney, cochlea and eye. The syndrome has different inheritance patterns and historically, was thought of as a disease affecting solely males. CASE: A 15-year-old female presented with pedal oedema, hypertension and...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Adolescent
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glomerulosclerosis, Focal Segmental

Share to Kidney

Share to Mutation

Share to Nephritis, Hereditary

Share to Nephrotic Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 38780768
DOI: 10.1007/s00467-024-06408-3
PMCID: PMC11413071

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An unusual case of nephrotic syndrome.PMID 38780768Read ↗

Atypical Alport syndrome associated with a novel COL4A5 mutation.Semantic proximity Read ↗

Phenotypic heterogeneity in females with X-linked Alport syndrome.Semantic proximity Read ↗

Alport syndrome misdiagnosed with IgA nephropathy from familial history: a case report and brief reviewSemantic proximity Read ↗

Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental GlomerulosclerosisSemantic proximity Read ↗

Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?Semantic proximity Read ↗

The clinical spectrum of type IV collagen mutations.Semantic proximity Read ↗

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.Semantic proximity Read ↗

Alport Syndrome in Women and Girls.Semantic proximity Read ↗

Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.Semantic proximity Read ↗

Familial hematuria: A review.Semantic proximity Read ↗

Renal, auricular, and ocular outcomes of Alport syndrome and their current management.Semantic proximity Read ↗

Revision about hearing loss in the Alport's syndrome, analyzing the clinical, genetic and bio-molecular aspects.Semantic proximity Read ↗

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