作者
Ana Jovanovic, Rajkumar Chinnadurai, Karolina M Stepien, Reena Sharma, Philip Kalra, Fahmida Mannan
发表日期
2024/2/1
期刊
Molecular Genetics and Metabolism
卷号
141
期号
2
页码范围
107907
出版商
Academic Press
简介
Fabry disease (FD) is a disorder resulting from the GLA gene mutations and α-galactosidase-A enzyme deficiency, often causing progressive renal impairment and end-stage kidney disease. This study aimed to assess epidemiology in a large FD patient cohort managed in a single centre, with a specific focus on identifying factors associated with renal disease progression. Data were retrospectively collected from electronic patient records. The analysis included patients with at least three eGFR values over one year, categorized as ‘slow progressors’(eGFR slope≤− 1 ml/min/year),‘intermediate progressors’(− 1 to− 3 ml/min/year), and ‘fast progressors’(>− 3 ml/min/year) to account for anticipated age-related eGFR decline. Univariate and multivariate logistic regression identified factors associated with accelerated eGFR decline and mortality (p< 0.05). In 395 FD participants followed for a median of 6.36 years (IQR …
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A Jovanovic, R Chinnadurai, KM Stepien, R Sharma… - Molecular Genetics and Metabolism, 2024