ArticleIndian journal of nephrology
Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.
Article in Indian journal of nephrology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.Prenatal diagnosis · 2025Article
- New mutation in Fabry disease: c.448delG, first phenotypic description.Molecular genetics and metabolism reports · 2021Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionNephropathy is one of the major complications of Fabry disease and mainly includes reduced glomerular filtration rate and proteinuria. Affected patients show different degrees of annual loss of renal function according to the magnitude of proteinuria and decrease in estimated glomerular filtration rate (eGFR) at the baseline. OBJETIVE: To analyze the relationship between age at diagnosis and severity of nephropathy in a Fabry disease population.
methodsCross-sectional design with retrospective data collection.
resultsSeventy-two patients were studied with mean age of 26.26 ± 16.48 years and 30 men (41.6%). Twenty-seven paediatric patients and 45 adults were included. Thirteen genotypes were found: E398X, L415P, c886A>G, L106R, c.680G>A, A292T, c. 448.delG, R363H, C382Y, R301Q, D109G, del 3 and 4 exons, W81X, all pathogenic mutations of GLA gene. The mean eGFR in paediatric population was 115.81 ± 20.87 ml/min/1.73 m
conclusionsDiagnosis of Fabry disease patients at a younger age could be a key to improve the nephropathy prognosis and allow early and effective interventions.
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