Epidemiology of Fabry disease in patients in hemodialysis in the Madrid community.

This study screened for Fabry disease (FD) in patients in hemodialysis (HD) in the region of Madrid (CAM) with a cross-sectional design to evaluate HD-prevalent patients, followed by a three-year period prospective design to analyze HD-incident patients. INCLUSION CRITERIA: patients older than 18 years on HD in the CAM, excluding patients diagnosed with any other hereditary disease with renal involvement different from FD, that sign the Informed Consent (IC). EXCLUSION CRITERIA: underaged patients or not agreeing or not being capable of signing the IC. RESULTS: 3470 patients were included, 63% males and with an average age of 67.9±9.7 years. 2357 were HD-prevalent patients and 1113 HD-incident patients. For HD-prevalent patients, average time in HD was 45.2 months (SD 51.3), in HD-incident patients proteinuria was present in 28.4%. There were no statistical differences in plasmatic alpha-galactosidase A (α-GAL-A) activity or Lyso-GL-3 values when comparing HD-prevalent and HD-incident populations and neither between males and females. A genetic study was performed in 87 patients (2.5% of patients): 60 male patients with decreased enzymatic activity and 27 female patients either with a decreased GLA activity, increased Lyso-Gl3 levels or both. The genetic variants identified were: p.Asp313Tyr (4 patients), p.Arg220Gln (3 patients) and M290I (1 patient). None of the identified variants is pathogenic. CONCLUSIONS: 76% of HD Centers of the CAM participated in the study. This is the first publication to describe the prevalence of FD in the HD-population of a region of Spain as well as its average α-GAL-A-activity and plasmatic Lyso-Gl3 levels. It is also the first study that combines a cross-sectional design with a prospective follow-up design. This study has not identified any FD patient.

Experiencia clínica con sacubitrilo/valsartán en pacientes con insuficiencia renal: la visión del nefrólogo / Sacubitril/valsartan in chronic kidney disease, the nephrologist point of view

ANTECEDENTES Y OBJETIVO: Sacubitrilo/valsartán ha demostrado ser eficaz en la reducción de la morbimortalidad cardiovascular en los pacientes con disfunción sistólica. El objetivo del presente estudio fue analizar la evolución de pacientes con enfermedad renal crónica (ERC) tras el inicio de sacubitril/valsartán. MATERIAL Y MÉTODOS: Se incluyó a 66 pacientes consecutivos que acudieron a las consultas externas de Nefrología, con ERC y disfunción sistólica. Los criterios de inclusión fueron: presentar una clase funcional II a IV de la New York Heart Association (NYHA) con el tratamiento médico optimizado y ERC estadios 1 a 4. Se recogieron datos basales epidemiológicos y de comorbilidad en el momento de inicio del fármaco. En los meses 1 y 3 se tituló la dosis de sacubitril/valsartán (en función de la tolerabilidad). En cada visita se recogieron datos analíticos de función renal y biomarcadores cardiacos, entre otros. Se analizaron los datos a los 6 meses (fin del seguimiento). RESULTADOS: De los 66 pacientes, 42 eran varones (63%), con una edad media de 73 ± 15 años. La creatinina media fue de 1,42 ± 0,5 mg/dL (filtrado glomerular CKD-EPI 50 ± 19 mL/min/1,73 m2) con una fracción de eyección del ventrículo izquierdo (FEVI) media de 31 ± 9. Al final del seguimiento, la FEVI mejoró significativamente (basal 31 ± 9 vs. final 39 ± 15; p < 0,001). En cuanto a la función renal, el filtrado glomerular por CKD-EPI presentó mejoría al mes (50 ± 19 vs. 53 ± 21 mL/min/1,73 m2; p = 0,005), que se mantuvo estable (filtrado glomerular al final del seguimiento 51 ± 18mL/min/1,73 m2). Abandonaron el tratamiento 7 pacientes (10,6%). CONCLUSIÓN: En nuestra experiencia, sacubitril/valsartán es seguro en los pacientes con insuficiencia renal crónica y estabiliza la función renal a los 6 meses

BACKGROUND AND OBJECTIVES: Sacubitril/valsartan reduces cardiovascular morbidity and mortality in patients with systolic dysfunction. The aim of the present study was to assess the evolution of chronic kidney disease (CKD) patients after initiating sacubitril/valsartan. MATERIAL AND METHODS: We included 66 consecutive CKD patients with systolic dysfunction followed up in outpatient care. Patients had to meet the inclusion criteria of having a New York Heart Association class II to iv, receiving maximum tolerated doses of optimal medical therapy and CKD stages 1 to 4. At baseline, comorbidities and epidemiological data were collected and low doses of sacubitril/valsartan were initiated. At month 1 and 3, doses of sacubitril/valsartan were increased up to the maximum doses if tolerated. In each visit, renal function and cardiac biomarkers were recorded. All the data were analyzed at the end of follow up (6 months). RESULTS: Of the 66 patients, 42 (63%) were men, with a mean age of 73 ± 15 years. Mean creatinine at baseline was 1.42 ± 0.5 mg/dL (glomerular filtration rate estimated by CKD-EPI was 50 ± 19 mL/min/1.73 m2) and mean left ventricular ejection fraction (LVEF) was 31 ± 9%. At the end of follow up, LVEF improved from 31 ± 9% to 39 ± 15% (P < 0.001). After one month of treatment, renal function improved up to 53 ± 21 mL/min/1.73 m2, P = 0.005. For the remaining follow-up time, glomerular filtration rate remained stable (mean at end of follow-up 51±18 mL/min/1.73 m2). Seven patients (10.6%) withdrew from treatment. CONCLUSION: In our experience, sacubitril/valsartan is safe in CKD, offering stability in CKD progression after 6 months

Sacubitril/valsartan in chronic kidney disease, the nephrologist point of view. / Experiencia clínica con sacubitrilo/valsartán en pacientes con insuficiencia renal: la visión del nefrólogo.

BACKGROUND AND OBJECTIVES: Sacubitril/valsartan reduces cardiovascular morbidity and mortality in patients with systolic dysfunction. The aim of the present study was to assess the evolution of chronic kidney disease (CKD) patients after initiating sacubitril/valsartan. MATERIAL AND METHODS: We included 66 consecutive CKD patients with systolic dysfunction followed up in outpatient care. Patients had to meet the inclusion criteria of having a New York Heart Association class ii to iv, receiving maximum tolerated doses of optimal medical therapy and CKD stages 1 to 4. At baseline, comorbidities and epidemiological data were collected and low doses of sacubitril/valsartan were initiated. At month 1 and 3, doses of sacubitril/valsartan were increased up to the maximum doses if tolerated. In each visit, renal function and cardiac biomarkers were recorded. All the data were analyzed at the end of follow up (6 months). RESULTS: Of the 66 patients, 42 (63%) were men, with a mean age of 73±15 years. Mean creatinine at baseline was 1.42±0.5 mg/dL (glomerular filtration rate estimated by CKD-EPI was 50±19 mL/min/1.73 m2) and mean left ventricular ejection fraction (LVEF) was 31±9%. At the end of follow up, LVEF improved from 31±9% to 39±15% (P <0.001). After one month of treatment, renal function improved up to 53±21 mL/min/1.73 m2, P=0.005. For the remaining follow-up time, glomerular filtration rate remained stable (mean at end of follow-up 51±18 mL/min/1.73 m2). Seven patients (10.6%) withdrew from treatment. CONCLUSION: In our experience, sacubitril/valsartan is safe in CKD, offering stability in CKD progression after 6 months.