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2.
G Ital Nefrol ; 21 Suppl 30: S168-71, 2004.
Artículo en Italiano | MEDLINE | ID: mdl-15750978

RESUMEN

PURPOSE: Erythropoietin (EPO) deficiency, erythropoiesis inhibition and reduction in red blood cell survival are the main causes of anemia in endstage renal disease (ESRD). Hemodiafiltration (HDF) with on-line endogenous reinfusion eliminates backfiltration and uses an ultrapure dialysate and reinfusate. This technique should improve anemia correction by increasing uremic toxin removal and reducing inflammatory cytokine production. In this study, we evaluated the effects of HDF with on-line endogenous reinfusion on anemia correction. METHODS: This was a single-center, prospective and non-randomized study. We selected 12 patients on EPO therapy with steady haemoglobin (Hb) values; eight patients were treated with bicarbonate dialysis and four patients with on-line HDF. We switched them to HDF with on-line endogenous reinfusion for 6 months, changing the EPO dose when Hb levels were not within the 11-12 g/dL range. Biochemical data were measured every month. Results are expressed as means +/- m.s.e. Data were analyzed using the Student's t-test and analysis of variance for repeated measurements. A value p<0.05 was considered statistically significant. RESULTS: Patients maintained the same Hb, ferritin and dialytic efficiency throughout the study. The EPO supplementation was significantly higher in patients treated with bicarbonate dialysis (108 +/- 8 UI/kg/week as compared with patients treated with on-line HDF (36 +/- 5 UI/kg/week) during the 6 months before treatment by HDF with on-line endogenous reinfusion. In the last 6 months, we detected a reduction in EPO consumption, but not statistically significant, in the patients switched from bicarbonate dialysis to HDF with on-line endogenous reinfusion (83 +/- 6 UI/kg/week). CONCLUSIONS: The change from bicarbonate dialysis to HDF with on-line endogenous reinfusion caused a reduction in EPO supplementation and, consequently, a reduction in the cost of anemia therapy. It is necessary to increase the size of the study group and to prolong the observation period to possibly obtain statistical significances.


Asunto(s)
Anemia/prevención & control , Hemodiafiltración/métodos , Soluciones para Hemodiálisis/administración & dosificación , Adulto , Anciano , Anciano de 80 o más Años , Anemia/etiología , Eritropoyetina/uso terapéutico , Femenino , Humanos , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/terapia , Masculino , Persona de Mediana Edad , Estudios Prospectivos
5.
Nephron ; 67(4): 444-9, 1994.
Artículo en Inglés | MEDLINE | ID: mdl-7969679

RESUMEN

In a large Italian family with adult-onset Alport syndrome, molecular analysis of the COL4A5 gene, which encodes the alpha 5(IV)-chain of glomerular basement membrane collagen, revealed a GGC-->AGC change in exon 38, resulting in substitution of a serine for a glycine in position 1143 of the polypeptide chain, between interruptions 19 and 20 of the triple helical domain. The mutation leads to loss of a restriction site for the enzyme Msp I, and could thus be easily recognized in several female and male relatives. Among relatives of both sexes who carried the same mutation, the clinical phenotype of Alport syndrome was variable as for the onset of renal failure and the presence of associated ear and eye abnormalities.


Asunto(s)
Colágeno/química , Colágeno/genética , Glicina/análisis , Nefritis Hereditaria/genética , Nefritis Hereditaria/metabolismo , Fenotipo , Serina/análisis , Adolescente , Adulto , Anciano , Secuencia de Bases , Colágeno/metabolismo , ADN/análisis , ADN/genética , Femenino , Genotipo , Glicina/metabolismo , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Mutación , Nefritis Hereditaria/epidemiología , Linaje , Serina/metabolismo
7.
Arch Ital Urol Nefrol Androl ; 63 Suppl 2: 89-92, 1991 Jun.
Artículo en Italiano | MEDLINE | ID: mdl-1836669

RESUMEN

ADPKD is the most widespread genetic nephropathy. Only twenty-five per cent of patients are symptomatic. In order to prevent the disease it is important early screening by ultrasonography that shows a typical picture only in adults. Familiar history is determinant for diagnosis in intrauterine age, in newborns and in infants. Ultrasonographic diagnosis is certain only after twenty-five weeks of pregnancy.


Asunto(s)
Enfermedades Fetales/diagnóstico por imagen , Tamizaje Masivo , Enfermedades Renales Poliquísticas/diagnóstico por imagen , Ultrasonografía Prenatal , Adolescente , Adulto , Factores de Edad , Niño , Femenino , Enfermedades Fetales/genética , Edad Gestacional , Humanos , Enfermedades Renales Poliquísticas/embriología , Enfermedades Renales Poliquísticas/genética , Enfermedades Renales Poliquísticas/prevención & control , Valor Predictivo de las Pruebas , Embarazo
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