ArticleJournal of nephrology2020
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.
Article in Journal of nephrology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Prevalence of Fabry Disease in Patients on Dialysis in France.International journal of molecular sciences · 2024Article
- Unambiguous Interpretation of the Pathogenicity of the GLA c.547+3A>G Variant Causing Fabry Disease.Genes · 2024Article
- Review
- Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages.Journal of nephrology · 2022Article
- Parapelvic Cysts: An Imaging Marker of Kidney Disease Potentially Leading to the Diagnosis of Treatable Rare Genetic Disorders? A Narrative Review of the Literature.Journal of nephrology · 2022Review
- Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.Clinical genetics · 2022Review
- Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.Frontiers in pediatrics · 2022Review
- Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.Kidney research and clinical practice · 2021Article
- DNA methylation impact on Fabry disease.Clinical epigenetics · 2021Review
- The Retinal Vessel Density as a New Vascular Biomarker in Multisystem Involvement in Fabry Disease: An Optical Coherence Tomography Angiography Study.Journal of clinical medicine · 2020Article
- Fabry disease: where are we now?International urology and nephrology · 2020Review
- Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.The Clinical biochemist. Reviews · 2020Review
- Diagnosis and Screening of Patients with Fabry Disease.Therapeutics and clinical risk management · 2020Review
- Pain in Fabry Disease: Could Spinal Cord Stimulation be a Solution?Indian journal of nephrologyArticle
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease (FD) is a rare X-linked genetic disorder of glycosphingolipid catabolism caused by mutations in the GLA gene. Its heterogeneous presentation, the paucity of specific early markers, and the absence of a genotype-phenotype correlation are associated with a delayed or missed diagnosis. The true prevalence of FD remains so far unknown.
methodsA systematic search of FD screening studies in dialysis patients published from January 1995 until January 2019 was performed to reanalyze the prevalence of GLA mutations in this population after assigning their correct phenotype.
resultsTwenty five screening studies involving 39,621 dialysis patients were included. Of them, 116 [91 males (0.23%) and 25 females (0.06%)] were positive to the GLA sequencing analysis. 56 (48.2%) had benign variant, 52 (44.8%) a pathogenic GLA mutation (39 classic and 13 late onset mutations) and 8 (6.9%) a mutation of uncertain significance. The overall prevalence of GLA variants was 0.24% [CI 95%, 0.17-0.32] while the overall prevalence recalculated on basis of only pathogenetic mutations was 0.14% [CI 95%, 0.08-0.20]. This difference was significant (P = 0.048).
conclusionsAlthough the real prevalence of classic FD is low, the screening in the high-risk renal population remains of primary interest as an early diagnosis is fundamental for a timely specific therapy; moreover, the identification of index cases could allow patients' relatives to be investigated and promptly treated.
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