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Resumen La hemodialisis domiciliaria (HDD) con monitores de bajo flujo de liquido de dialisis ha ganado popularidad en los ultimos anos gracias a su sencillez de diseno, portabilidad y capacidad de desplazamiento. No obstante, existen dudas respecto a la adecuacion que este tipo de tecnica ofrece, pues utiliza monitores con bano a flujos bajos y lactato. El objetivo de este estudio fue demostrar los beneficios clinicos de la HDD con el monitor NxStage System One® introducido recientemente en Espana. Presentamos los resultados de un estudio observacional, retrospectivo que incluyo de manera no seleccionada a los primeros pacientes con HDD corta mediante este monitor en 12 centros en Espana. Se analizo la evolucion clinica de 86 pacientes a 0, 6 y 12 meses, incluyendo datos relacionados con la prescripcion, evolucion de parametros analiticos de dosis de dialisis, anemia, metabolismo oseo-mineral, evolucion de la diuresis residual, utilizacion de farmacos y datos relacionados con permanencia en la tecnica, y causas de salida a lo largo del seguimiento. Pudimos demostrar que este monitor proporciono una adecuada dosis de dialisis, con tasa optima de ultrafiltracion, con mejoria de los principales marcadores bioquimicos de adecuacion en dialisis. El uso de esta tecnica se asocio con una disminucion de antihipertensivos, captores del fosforo y agentes eritropoyeticos, observandose, ademas, muy buenos resultados de supervivencia tanto del paciente como de la tecnica. La sencillez de este monitor unida a sus buenos resultados clinicos deberia facilitar el crecimiento y utilizacion de la HDD, tanto en pacientes incidentes como prevalentes.

Erratum: Kidney and Blood Pressure Research. Kidney Dis (Basel). 2022 Feb 10;8(2):180. doi: 10.1159/000522306. PMID: 35527990 Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency. A correct diagnosis of FD, although challenging, has considerable implications regarding treatment, management, and counseling. The diagnosis may be confirmed by demonstrating the enzyme deficiency in males and by identifying the specific GLA gene mutation in male and female patients. Treatment with enzyme replacement therapy, as part of the therapeutic strategy to prevent complications of the disease, may be beneficial in stabilizing renal function or slowing its decline, particularly in the early stages of the disease. Emergent treatments for FD include the recently approved chaperone molecule migalastat for patients with amenable mutations. The objective of this report is to provide an updated overview on Fabry nephropathy, with a focus on the most relevant aspects of its epidemiology, diagnosis, pathophysiology, and treatment options. Sí

Trace elements are essential substances for the proper physiological and biochemical functioning of the organism. Hemodialysis patients are potentially at risk of deficiency or excess of these elements. The application of inductively coupled plasma mass spectrometry (ICP-MS) allows the simultaneous quantification of very small amounts of multiple trace elements. The aim was to measure the serum concentration of copper (Cu), zinc (Zn), selenium (Se), and nickel (Ni), and the whole blood concentration of arsenic (As), lead (Pb), and manganese (Mn), in patients undergoing hemodialysis as well as in controls.The study was carried out in 57 hemodialysis patients compared with 57 controls with normal renal function. Serum and whole blood samples from the dialysis group were collected before and after hemodialysis sessions and Cu, Zn, Se, Ni, As, Pb and Mn levels were determined using ICP-MS.Hemodialysis patients showed significantly lower blood levels of Cu, Zn and Se than controls (p 0.001) and higher concentrations of Ni, As and Pb (p 0.0001). The levels of Mn were similar in both groups. After performing hemodialysis, Cu, Zn, Se and Ni concentrations were significantly higher than the pre-hemodialysis levels (p 0.0001). However, the concentration of As decreased (p 0.0001) and Pb and Mn levels were not significantly altered after the dialysis session.Hemodialysis patients are at increased risk of trace elements deficiency (especially for Zn and Se) or excess (Ni) in respect to healthy subjects. Monitoring of blood levels and supplementation of some trace elements may be indicated in patients undergoing hemodialysis.

Background. Heart failure (HF) is a major health problem in developed countries. HF is a progressive, lethal disorder, even with adequate treatment. There exists a vicious circle in the pathophysiology of HF that perpetuates and magnifies the problem. Concomitant fluid accumulation may worsen the congestive HF, it is responsible for numerous hospitalizations and it is an important cause of mortality. In this situation, any means of fluid removal may aid in the management of these patients. The objective of this study was to evaluate the efficacy of peritoneal dialysis (PD) in the treatment of refractory HF in terms of functional status, hospitalization and mortality. We also determined the improvement in health-related quality of life with the use of PD, and examined the economic consequences of its use. Methods. We conducted a single centre, prospective, nonrandomized study involving patients showing symptoms and signs of congestive HF refractory to maximum tolerable drug treatment. All of them were treated with PD. We analysed physical and biochemical determinations, functional status (according to the NYHA classification) and echocardiogram parameters. Also, to determine the efficacy of the technique we compared the perceived state of health (measured by the EQ5D) to PD patients respect to those reported with conservative therapies. Finally, we carried out a costutility evaluation measured by the incremental cost-utility ratio between these two options. Results. Seventeen patients (65% men, 64 ± 9 years) were included in the study, and 12 were still undergoing PD treatment at the end of the follow-up period (15 ± 9 months). All patients improved their NYHA functional status (65% two classes; the rest, one; P < 0.001), with an important improvement in their pulmonary artery systolic pressure (44 ± 12 versus 27 ± 9 mmHg; P = 0.007), but no changes in left ventricular ejection fraction. Hospitalization rates underwent a dramatic reduction (from 62 ± 16 to 11 ± 5 days/patient/year; P = 0.003) before and after PD treatment. PD treatment raised life expectancy of 82% after 12 months of treatment, and 70% and 56% after 18 and 24 months, respectively, much better outcomes than those reported about conservative therapies, which only use diverse diuretic regimens. PD was associated with a higher perception state of health than the conservative therapy (0.6727 versus 0.4305; P < 0.01). Finally, we found that PD is cost-effective compared with the conservative therapy. Conclusions. We demonstrate that congestive HF programmes should consider offering PD in hope of seeing better functional status, reduced morbidity and mortality, better quality of life as well as reduced health care costs.

OSERCE is a multi-centre and cross-sectional study with the aim of analysing the biochemical, clinical, and management characteristics of bone mineral metabolism alterations and the level of compliance with K/DOQI guideline recommendations in patients with chronic kidney disease (CKD) not on dialysis. The study included a total of 634 patients from 32 different Spanish nephrology units, all with CKD, estimated glomerular filtration rates60 ml/min/1.73 m(2), and not on dialysis (K/DOQI stage: 33% stage 3, 46% stage 4, and 21% stage 5). In 409 of these patients, laboratory parameters were also measured in a centralised laboratory, including creatinine, calcium, phosphorous, intact parathyroid hormone (PTH), 25-OH-vitamin D, and 1,25-OH2-Vitamin D levels. The rates of non-compliance with the K/DOQI objectives for calcium, phosphorous, intact PTH, and calcium x phosphate product among these patients were 45%, 22%, 70%, and 4%, respectively. Of the 70% of patients with intact PTH levels outside of the target range established by the K/DOQI guidelines, 55.5% had values above the upper limit and 14.5% had values below the lower limit. Of the 45% of patients with calcium levels outside of the target range, 40% had values above the upper limit and 5% had values below the lower limit. Of the 22% of patients with phosphorous levels outside of the target range, 19% had values above the upper limit, and 3% had values below the lower limit. Finally, 4% of patients also had values for the calcium x phosphate product that were outside of the recommended range. Only 1.8% of patients complied with all four K/DOQI objectives. The values detected in centralised laboratory analyses were not significantly different from those measured in the laboratories at each institution. In addition, 81.5% of patients had a deficiency of calcidiol (25-OH-D3) (30 ng/ml); of these, 35% had moderate-severe deficiency (15 ng/ml) and 47% had mild deficiency (15-30 ng/ml). Calcitriol (1,25-OH2-D3) levels were deficient in 64.7% of patients. Whereas the calcidiol deficiency was not correlated with the CKD stage, calcitriol deficit were more pronounced at more advanced stages of CKD. The results of the OSERCE study confirm the difficulty in reaching the target values recommended by the K/DOQI guidelines in patients with CKD not on dialysis, in particular in the form of poor control of secondary hyperparathyroidism and vitamin D deficiency. With this in mind, we must review strategies for treating bone mineral metabolism alterations in these patients, and perhaps revise the target parameters set by current guidelines.

BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme alpha-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females. However, heterozygous females usually present a milder phenotype with a later onset and a slower progression. METHODS: A combined enzymatic and genetic strategy was used, measuring the activity of alpha-galactosidase A and genotyping the alpha-galactosidase A gene (GLA) in dried blood samples (DBS) of 911 patients undergoing haemodialysis in centers across Spain. RESULTS: GLA alterations were found in seven unrelated patients (4 males and 3 females). Two novel mutations (p.Gly346AlafsX347 and p.Val199GlyfsX203) were identified as well as a previously described mutation, R118C. The R118C mutation was present in 60% of unrelated patients with GLA causal mutations. The D313Y alteration, considered by some authors as a pseudo-deficiency allele, was also found in two out of seven patients. CONCLUSIONS: Excluding the controversial D313Y alteration, FD presents a frequency of one in 182 individuals (0.55%) within this population of males and females undergoing haemodialysis. Moreover, our findings suggest that a number of patients with unexplained and atypical symptoms of renal disease may have FD. Screening programmes for FD in populations of individuals presenting severe kidney dysfunction, cardiac alterations or cerebrovascular disease may lead to the diagnosis of FD in those patients, the study of their families and eventually the implementation of a specific therapy. Yes Enfermedad de Fabry (FD), un trastorno ligado al cromosoma X de almacenamiento lisosomal, es causada por una reducción de la actividad de la enzima lisosomal alfa-galactosidasa A. El desorden en última instancia, conduce a daños en los órganos (que incluyen insuficiencia renal) en hombres y mujeres. Sin embargo, las mujeres heterocigotas suelen presentar un fenotipo más leve, con un inicio más tardío y una progresión más lenta. MÉTODOS: Una estrategia combinada enzimática y genética se utilizó la medición de la actividad de la alfa-galactosidasa A y genotipo de la alfa-galactosidasa A gen (GLA) en muestras de sangre seca (DBS) de 911 pacientes sometidos a hemodiálisis en los centros de toda España. RESULTADOS: GLA se encontraron alteraciones en siete pacientes no relacionados (4 hombres y 3 mujeres). Dos nuevas mutaciones (p.Gly346AlafsX347 y p.Val199GlyfsX203) fueron identificados, así como una mutación se ha descrito anteriormente, R118C. La mutación R118C estuvo presente en el 60% de los pacientes no relacionados con mutaciones causales de GLA. La alteración D313Y, considerado por algunos autores como un alelo pseudo-deficiencia, también se encontró en dos de cada siete pacientes. CONCLUSIONES: Excluyendo la alteración D313Y polémica, DF presenta una frecuencia de uno en 182 individuos (0,55%) dentro de esta población de hombres y mujeres sometidos a hemodiálisis. Por otra parte, nuestros resultados sugieren que un número de pacientes con síntomas inexplicables y atípicos de la enfermedad renal puede tener FD. Los programas de detección de FD en las poblaciones de individuos que presentan una disfunción renal grave, alteraciones cardiacas o enfermedad cerebrovascular puede conducir al diagnóstico de la FD en los pacientes, el estudio de sus familias y, finalmente, la aplicación de una terapia específica.

Soft tissue infections are rare manifestations of extra-intestinal salmonellosis and occur more frequently in immunocompromized patients [1-4]. We report haemorrhagic cellulitis in an immunosuppressed patient with sepsis caused by a non-typhoid Salmonella.

Introduccion La dialisis peritoneal (DP) es una tecnica sustitutiva de la funcion renal indicada en pacientes con inestabilidad hemodinamica. Hay diversas series publicadas, aunque con escaso numero de pacientes, en las que se aplica con exito en el tratamiento de la sobrecarga hidrica propia de la insuficiencia cardiaca (IC) rebelde al tratamiento medico convencional. Con el objetivo de demostrar la excelente tolerabilidad de la tecnica en esta afeccion, presentamos la experiencia de nuestro centro con 5 pacientes con IC congestiva severa y diversos grados de enfermedad renal cronica, que recibieron este tratamiento. Resultados Hemos estudiado a 3 varones y 2 mujeres de 60 ± 6,3 anos, durante 9,8 ± 3,7 meses, con IC de clase IV de la clasificacion de la New York Heart Association (NYHA) y rebelde al tratamiento medico convencional, con un filtrado glomerular estimado (FGE) medio de 43,60 ± 27,07 ml/ min/1,73 m2. Se utilizo solucion de icodrextrina como agente osmotico. Nuestros resultados son superponibles a los de otros estudios realizados: en todos nuestros pacientes mejoro la clase funcional segun la clasificacion de la NYHA y disminuyeron los tiempos de hospitalizacion de 139,2 ± 55,2 a 12,4 ± 13,7 dias por ano. Carecemos de datos suficientes para afirmar aumento de la supervivencia, aunque aparentemente es sustancialmente mayor que la esperada segun su comorbilidad. Ademas, en 3 pacientes se objetivo mejoria ecocardiografica. Conclusiones Parece necesario realizar estudios prospectivos con mayor numero de individuos para establecer las indicaciones de la tecnica, confirmar la reduccion en la morbilidad y la hospitalizacion y la mejoria del grado funcional, aclarar el impacto en la supervivencia, estudiar la evidencia de una posible recuperacion de la funcion cardiaca y analizar el coste-beneficio.