Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study.

RATIONALE & OBJECTIVE: Chronic kidney disease (CKD) of unknown etiology (CKDUE) is one of the main global causes of kidney failure. While genetic studies may identify an etiology in these patients, few studies have implemented genetic testing of CKDUE in population-based series of patients which was the focus of the GENSEN. STUDY DESIGN: Case series. SETTINGS & PARTICIPANTS: 818 patients aged ≤45 years at 51 Spanish centers with CKDUE, and either an estimated GFR <15 mL/min/1.73 m2 or treatment with maintenance dialysis or transplantation. OBSERVATIONS: Genetic testing for 529 genes associated to inherited nephropathies using high-throughput sequencing (HTS). Pathogenic and/or likely pathogenic (P/LP) gene variants concordant with the inheritance pattern were detected in 203 (24.8%) patients. Variants in type IV collagen genes were the most frequent (COL4A5, COL4A4, COL4A3; 35% of total gene variants), followed by NPHP1, PAX2, UMOD, MUC1 and INF2 (7.3%, 5.9%, 2.5%, 2.5% and 2.5% respectively). Overall, 87 novel variants classified as P/LP were identified. The top 5 most common previously undiagnosed diseases were Alport syndrome spectrum (35% of total positive reports), genetic podocytopathies (19%), nephronophthisis (11%), autosomal dominant tubulointerstitial kidney disease (7%) and congenital anomalies of the kidney and urinary tract (CAKUT: 5%). Family history of kidney disease was reported by 191 (23.3 %) participants and by 65/203 (32.0%) patients with P/LP variants. LIMITATIONS: Missing data. Selection bias resulting from voluntary enrollment. CONCLUSIONS: Genomic testing with HTS identified a genetic cause of kidney disease in approximately one quarter of young patients with CKDUE and advanced kidney disease. These findings suggest that genetic studies are a potentially useful tool for the evaluation of people with CKDUE.

Fracaso renal agudo en pacientes con mieloma: Nuestra experiencia con hemodiálisis extendidas con dializadores de alto poro / Acute renal failure in patients with myeloma: Experience with extended high cut-off hemodialysis

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Seroprevalencia de hepatitis C en población con factores de riesgo del suroeste de la Comunidad de Madrid / Hepatitis C seroprevalence in an at-risk population in the southwest Madrid region of Spain

INTRODUCCIÓN: La seroprevalencia estimada del VHC en España es del 1,7%, cifra que es muy superior en la población con factores de riesgo. Se desconoce cuál sería la estrategia de cribado más eficiente en nuestro país. OBJETIVOS: Estimar la prevalencia del VHC en la población con factores de riesgo atendida en Atención Primaria (AP) y conocer su perfil epidemiológico. MATERIAL Y MÉTODOS: Estudio descriptivo transversal de prevalencia que incluyó a pacientes adultos con factores de riesgo de infección por VHC asistidos en AP de la zona suroeste de la Comunidad de Madrid entre 2010 y 2012. RESULTADOS: Se incluyó a 158 pacientes (H: 51,3%) con una edad media de 46 años (DE=16,6). Los factores de riesgo más frecuentes fueron la hipertransaminasemia (44,3%) y cirugía mayor (13,3%). La inmigración, las prácticas sexuales de riesgo y los tatuajes o piercing fueron más prevalentes en los menores de 45 años. Del total de pacientes, 15 (9,5%) presentaron anti-VHC positivo, de ellos 9 tenían ARN-VHC positivo (5,7%). De los pacientes positivos, 4 (44,4%) presentaron fibrosis significativa al diagnóstico (F3-F4). Los pacientes varones presentaron una mayor tasa de anti-VHC positivo (13,8 vs. 5,3%; p = 0,072), y también los pacientes mayores de 45 años (12,8 vs. 6,3%; p = 0,167). El uso de drogas parenterales se asoció a mayor tasa de anti-VHC positivo (50 vs. 8,5%; p = 0,005), así como el uso de drogas vía nasal (66,7 vs. 8,4%; p = 0,001). CONCLUSIONES: Los pacientes con factores de riesgo de infección por VHC presentan una elevada seroprevalencia. Por tanto, es necesario implantar programas de detección de la infección VHC en esta población en AP

INTRODUCTION: The estimated seroprevalence of hepatitis C virus (HCV) in Spain is 1.7%, but is much higher in the at-risk population. The most efficient national screening strategy is unclear. AIMS: To estimate the prevalence of HCV among the at-risk population seen in primary care (PC), and to determine their epidemiological profile. MATERIALS AND METHODS: Cross-sectional descriptive prevalence study that included adult patients with risk factors for HCV infection seen in PC in the southwest Madrid region between 2010 and 2012. RESULTS: A total of 158 patients (men=51.3%), mean age 46 years (SD=16.6), were included. The most common risk factors were hypertransaminasaemia (44.3%) and major surgery (13.3%). Immigration, unsafe sexual practices, and tattoos or body piercing were more prevalent in patients younger than 45 years of age. Fifteen patients (9.5%) were positive for anti-HCV; 9 of these (5.7%) were HCV-ARN positive. Of the positive patients, 4 (44.4%) had significant fibrosis at diagnosis (F3-F4). Male patients had a higher rate of positive anti-HCV results (13.8 vs. 5.3%; P=.072), as did patients older than 45 years of age (12.8 vs. 6.3%; P=.167). Intravenous and intranasal drug use were associated with a higher rate of positive anti-HCV results (50 vs. 8.5%; P=.005 and 66.7 vs. 8.4%; P=.001, respectively). CONCLUSIONS: Patients with risk factors for HCV infection have high seroprevalence. Screening programmes must therefore be implemented to detect HCV infection in this population in PC

Hepatitis C seroprevalence in an at-risk population in the southwest Madrid region of Spain. / Seroprevalencia de hepatitis C en población con factores de riesgo del suroeste de la Comunidad de Madrid.

INTRODUCTION: The estimated seroprevalence of hepatitis C virus (HCV) in Spain is 1.7%, but is much higher in the at-risk population. The most efficient national screening strategy is unclear. AIMS: To estimate the prevalence of HCV among the at-risk population seen in primary care (PC), and to determine their epidemiological profile. MATERIALS AND METHODS: Cross-sectional descriptive prevalence study that included adult patients with risk factors for HCV infection seen in PC in the southwest Madrid region between 2010 and 2012. RESULTS: A total of 158 patients (men=51.3%), mean age 46 years (SD=16.6), were included. The most common risk factors were hypertransaminasaemia (44.3%) and major surgery (13.3%). Immigration, unsafe sexual practices, and tattoos or body piercing were more prevalent in patients younger than 45 years of age. Fifteen patients (9.5%) were positive for anti-HCV; 9 of these (5.7%) were HCV-ARN positive. Of the positive patients, 4 (44.4%) had significant fibrosis at diagnosis (F3-F4). Male patients had a higher rate of positive anti-HCV results (13.8 vs. 5.3%; P=.072), as did patients older than 45 years of age (12.8 vs. 6.3%; P=.167). Intravenous and intranasal drug use were associated with a higher rate of positive anti-HCV results (50 vs. 8.5%; P=.005 and 66.7 vs. 8.4%; P=.001, respectively). CONCLUSIONS: Patients with risk factors for HCV infection have high seroprevalence. Screening programmes must therefore be implemented to detect HCV infection in this population in PC.

Paricalcitol reduces oxidative stress and inflammation in hemodialysis patients.

BACKGROUND: Treatment with selective vitamin D receptor activators such as paricalcitol have been shown to exert an anti-inflammatory effect in patients on hemodialysis, in addition to their action on mineral metabolism and independently of parathyroid hormone (PTH) levels. The objective of this study was to evaluate the additional antioxidant capacity of paricalcitol in a clinical setting. METHODS: The study included 19 patients with renal disease on hemodialysis, of whom peripheral blood was obtained for analysis at baseline and three months after starting intravenous paricalcitol treatment. The following oxidizing and inflammatory markers were quantified: malondialdehyde (MDA), nitrites and carbonyl groups, indoleamine 2,3-dioxygenase (IDO), tumor necrosis factor alfa (TNF-α), interleukin-6 (IL-6), interleukin-18 (IL-18) and C-reactive protein (CRP). Of the antioxidants and anti-inflammatory markers, superoxide dismutase (SOD), catalase, reduced glutathione (GSH), thioredoxin, and interleukin-10 (IL-10) levels were obtained. RESULTS: Baseline levels of oxidation markers MDA, nitric oxide and protein carbonyl groups significantly decreased after three months on paricalcitol treatment, while levels of GSH, thioredoxin, catalase and SOD activity significantly increased. After paricalcitol treatment, levels of the inflammatory markers CRP, TNF-α, IL-6 and IL-18 were significantly reduced in serum and the level of anti-inflammatory cytokine IL-10 was increased. CONCLUSIONS: In renal patients undergoing hemodialysis, paricalcitol treatment significantly reduces oxidative stress and inflammation, two well known factors leading to cardiovascular damage.

Determinación de los cambios en la función de sensibilidad al contraste posterior a la terapia visualen pacientes con diagnóstico de ambliopía refractiva / Determination of changes in the sensitivity contrast function following

Introducción: se ha descrito que la sensibilidad al contraste se ve afectada en ojos ambliopes y que mejora luego de la terapia visual. Objetivo: determinar los cambios en la función visual de sensibilidad al contraste posterior a terapia en niños con diagnóstico de ambliopía refractiva. Materialesy métodos: se realizó un estudio retrospectivo en una muestra de veintiún pacientes con edades comprendidas entre los cinco y quince años del Centro de Especialización Optométrica (CEO) en Pamplona, España. Se incluyeron historias clínicas con diagnóstico de ambliopía refractiva que asistieron al CEO durante el 2007 al 2009. Resultados: la agudeza visual presentó cambios estadísticamente significativos en visión lejana (p < 0,05) y la sensibilidad al contraste en las frecuencias espaciales de seis (p < 0,05) y doce ciclos por minuto (p < 0,05). Conclusiones: se encontraron cambios en dos de los factores que evalúan la función visual incluidos en este estudio (agudeza visual y sensibilidad al contraste), entre el momento previo y posterior a la terapiade entrenamiento visual.

Introduction: It has been reported that contrast sensitivity is impaired in amblyopic eyes and that it improves after visual therapy. Objective: To determine the changes in the contrast sensitivity function after therapy in children diagnosed with refractive amblyopia. Materials and Methods: A retrospective study was carried out in a sample of 21 patients between the ages 5 and 15, from the Centro de Especialización Optométrica (CEO) in Pamplona, Spain. Medical records were included of patients diagnosed with refractive amblyopia who frequented the CEO from 2007 to 2009. Results: Visual acuity showed statistically significant changes in distance vision (p <0.05) and contrast sensitivity at a spatial frequency of 6 (p <0.05) and 12 cycles per minute (p <0.05).Conclusions: Changes were found in two of the factors that evaluate visual function included in this study (visual acuity and contrast sensitivity) before and after visual training therapy.