Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

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.

Albuminuria en paciente con Enfermedad de Morquio Tipo A. Reporte de un caso / Albuminuria in patient with MorquioÆs disease Type A. A case report

La Enfermedad de Morquio (MPS IV-A) es producida por dos defectos enzimáticos diferentes. Desde que la terapia de sustitución enzimática (TSE) se encuentra disponible para algunas EDL y en desarrollo para otras, este grupo de patologías han despertado un gran interés en la comunidad científica debido a que la misma parecería una alternativa terapéutica prometedora para cambiar el curso evolutivo de los pacientes afectados. Se presenta un caso con presencia de albuminuria

Morquio's disease (MPS IV-A) is produced by two different enzymatic defects. Since enzymatic replacement therapy (ERT) is available for some LDD and others under development, this group of diseases have created great interest within the scientific community due to the fact that promising therapeutic alternative will be available to change disese course of affected patient. We present a case with albuminuria.