ReviewPediatric nephrology (Berlin, Germany)2012
Women and Alport syndrome.
Review in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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.
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.
Who cites it
38 citing papers in PubMed, 77 citations in OpenAlex.
- Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report.Molecular genetics and metabolism reports · 2026Article
- mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome.Kidney international reports · 2026Article
- Clinical practice recommendations for the management of Alport syndrome: a joint statement of the Korean Society of Nephrology and the Korean Society of Pediatric Nephrology.Kidney research and clinical practice · 2026Article
- Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants.Journal of the American Society of Nephrology : JASN · 2025Article
- Prospective Cohort Study in Alport Syndrome Patients Under Standard Therapy.Kidney international reports · 2025Article
- An unusual case of nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- A NovelGenes · 2024Article
- Ascending aortic aneurysm and histopathology in Alport syndrome: a case report.BMC nephrology · 2023Article
- Current and Future Therapeutical Options in Alport Syndrome.International journal of molecular sciences · 2023Review
- A Systematic Review of PathogenicKidney international reports · 2022Article
- Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.Scientific reports · 2022Article
- Article
- Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.Scientific reports · 2022Article
- The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.Frontiers in medicine · 2022Article
- Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.Frontiers in medicine · 2022Article
- Detection of Very Low-Level Somatic MosaicFrontiers in medicine · 2022Article
- Uncovering Modifier Genes of X-Linked Alport Syndrome Using a Novel Multiparent Mouse Model.Journal of the American Society of Nephrology : JASN · 2021Article
- Long-term outcome among females with Alport syndrome from a single pediatric center.Pediatric nephrology (Berlin, Germany) · 2021Article
- Determination of the pathogenicity of a novel COL4A5 missense variant by CRISPR-Cas9 in kidney podocytes.American journal of translational research · 2021Article
- Novel Mutations ofBioMed research international · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males. Until recent decades, the disease burden in heterozygous "carrier" females was largely minimized or ignored. Heterozygous females have widely variable disease outcomes, with some affected females exhibiting normal urinalysis and kidney function, while others develop ESRD and deafness. While the determinants of disease severity in females with XLAS are uncertain, skewing of X-chromosome inactivation has recently been found to play a role. This review will explore the natural history of heterozygous XLAS females, the determinants of disease severity, and the utility of using XLAS females as kidney donors.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.