ArticleBiomedicines2020
Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team.
Article in Biomedicines, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- Outcomes and management of kidney transplant recipients with Fabry disease: a review.Journal of nephrology · 2024Review
- Article
- Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis.Life (Basel, Switzerland) · 2023Article
- Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.Metabolic brain disease · 2023Article
- Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.Life (Basel, Switzerland) · 2022Article
- Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies.Biomedicines · 2022Article
- Prevalence of Fabry Disease among Patients with Parkinson's Disease.Parkinson's disease · 2022Article
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- Cognitive Impairment in Inpatients with Prurigo Nodularis and Psychiatric Comorbidities.International journal of environmental research and public health · 2021Article
- Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.Frontiers in medicine · 2021Review
- Outcomes of Kidney Transplantation in Fabry Disease: A Meta-Analysis.Diseases (Basel, Switzerland) · 2020Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD in a population of kidney recipients, with a particular focus of the multidisciplinary approach for an early clinical assessment and therapeutic approach. Two hundred sixty-five kidney transplant recipients were screened with a genetic analysis for α-galactosidase A (GLA) mutation, with measurement of α-Gal A enzyme activity and Lyso Gb3 levels. Screening was also extended to relatives of affected patients. Seven patients (2.6%) had a GLA mutation. Two patients had a classic form of FD with Fabry nephropathy. Among the relatives, 15 subjects had a GLA mutation, and two had a Fabry nephropathy. The clinical and diagnostic assessment was completed after a median of 3.2 months, and mean time from diagnosis to treatment was 4.6 months. This study reported a high incidence of unrecognized GLA mutations in kidney transplant recipients. Evaluation and management by a multidisciplinary team allowed for an early diagnosis and treatment, and this would result in a delay in the progression of the disease and, finally, in better long-term outcomes.
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