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 ORIGINAL ARTICLE
Year : 2019  |  Volume : 29  |  Issue : 6  |  Page : 398-401

Direct correlation between age at diagnosis and severity of nephropathy in fabry disease patients


1 Biophysics and Human Physiology Department, School of Medicine, Instituto Universitario Italiano de Rosario; Los Manantiales, Neurosciences Center, Grupo GAMMA Rosario, Argentina
2 Center for Infusion and Study of Lysosomal Diseases, Instituto de Nefrología Pergamino, Buenos Aires, Argentina
3 Intensive Unit Care Department, Dr. Enrique Erill Hospital, Belen de Escobar, Buenos Aires, Argentina

Correspondence Address:
Dr. Sebastián P. A. Jaurretche
Centro de Neurociencias Los Manantiales, Grupo Gamma Rosario, Córdoba 2589, S2000KZG, Rosario, Santa Fe
Argentina
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijn.IJN_167_18

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Introduction: Nephropathy 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. Methods: Cross-sectional design with retrospective data collection. Results: Seventy-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 m2 and in adults was 80.63 ± 42.22 ml/min/1.73 m2. The Pearson's bilateral correlation coefficient test (value = −0.462) between the age at diagnosis and eGFR indicates inverse correlation between both variables with a strong statistical significance (P = < 0.01). Spearman's bilateral correlation coefficient (value = +0.385) between the variables at diagnosis and the degree of proteinuria indicates direct correlation between both variables with a strong statistical significance (P= <0.01). Conclusions: Diagnosis 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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