ArticleOrphanet journal of rare diseases2020
Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled 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.
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
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- A Systematic Literature Review on the Use of Dried Biofluid Microsampling in Patients With Kidney Disease.Journal of clinical laboratory analysis · 2024Pooled it
- Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH).BMC nephrology · 2025Article
- Prevalence of Fabry Disease in Patients on Dialysis in France.International journal of molecular sciences · 2024Article
- What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.International journal of molecular sciences · 2024Article
- Gastrointestinal Manifestations and Low-Nutrients · 2023Article
- The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study.BMC nephrology · 2022Article
- Fabry disease - a genetically conditioned extremely rare disease with a very unusual course.Intractable & rare diseases research · 2022Article
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia.Saudi medical journal · 2020Article
- Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family.Case reports in nephrology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis.
backgroundFD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-A (α-GAL-A). Affected individuals are at risk of developing small-fibre neuropathy, rash, progressive kidney disease, hypertrophic cardiomyopathy and ischaemic stroke. Diagnosis is often delayed by years or even decades. Screening high risk population such as dialysis patients may identify patients with undiagnosed Fabry disease.
methodsA cross-sectional study was undertaken of all adult patients receiving dialysis in WA, without previously known FD. After informed consent they were screened for α-GAL-A activity by dried blood spot samples. Low or inconclusive activity were repeated via Centogene in Rostock, Germany with GLA genetic analysis. Ethics approval was granted by Royal Perth Hospital Human Research Ethic Committee REG 14-136; site-specific approval was granted from appropriate authorities; ANZ Clinical Trials Registry U1111-1163-7629.
resultsBetween February 2015 & September 2017, α-GAL-A activity was performed on 526 patients at 16 dialysis sites. Twenty-nine patients had initial low α-GAL-A; repeat testing & GLA genotyping showed no confirmed FD cases. The causes of false positive rates were thought to be secondary to impaired protein synthesis due to patient malnutrition and chronic inflammation, which is common among dialysis patients, in addition to poor sampling handling.
conclusionAnalysis of this dialysis population has shown a prevalence of 0% undiagnosed FD. False positives results may occur through impaired protein synthesis and sample handling.
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.