Predicting Future Renal Function Decline in Patients with Autosomal Dominant Polycystic Kidney Disease Using Mayo Clinic Classification.

INTRODUCTION: Mayo clinic classification (MCC) has been proposed in patients with autosomal dominant polycystic kidney disease (ADPKD) to identify who may experience a rapid decline of renal function. Our aim was to validate this predictive model in a population from southern Spain. METHODS: ADPKD patients with measurements of height-adjusted total kidney volume (HtTKV) and baseline estimated glomerular filtration rate (eGFR) >30 mL/min/1.73 m2 were selected. Last eGFR was estimated with Mayo Clinic (MC) equation and bias and accuracy were studied. We also analyzed predictive capacity of MCC classes using survival analysis and Cox regression models. RESULTS: We included 134 patients with a mean follow-up of 82 months. While baseline eGFR was not different between classes, last eGFR decreased significantly with them. eGFR variation rate was different according to the MCC class with a more rapid decline in 1C, 1D, and 1E classes. Final eGFR predicted was not significantly different from the real one, with an absolute bias of 0.6 ± 17.0 mL/min/1.73 m2. P10 accuracy was low ranging from 37.5 to 59.5% in classes 1C, 1D, and 1E. Using MC equation, the rate of eGFR decline was underestimated in 1C, 1D, and 1E classes. Cox regression analysis showed that MCC class is a predictor of renal survival after adjusting with baseline eGFR, age, sex, and HtTKV, with 1D and 1E classes having the worst prognosis. CONCLUSION: MCC classification is able to identify patients who will undergo a more rapid decline of renal function in a Spanish population. Prediction of future eGFR with MC equation is acceptable as a group, although it shows a loss of accuracy considering individual values. The rate of eGFR decline calculated using MC equation can underestimate the real rate presented by patients of 1C, 1D, and 1E classes.

Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

Background: Our study aims to comment on all ADPKD variants identified in our health area and explain how they are distributed geographically, to identify new variants, and relate the more frequent variants with their renal phenotype in terms of kidney survival. Materials and Methods: We identified patients suffering from ADPKD in a specialized consultation unit; genealogical trees were constructed from the proband. According to the ultrasound-defined modified Ravine-Pei criteria, relatives classified as at risk were offered participation in the genetic study. Socio-demographic, clinical, and genetic factors related to the impact of the variant on the survival of the kidney and the patient, such as age at RRT beginning and age of death, were recorded. Results: In 37 families, 33 new variants of the PKD1 gene were identified, which probably produce a truncated protein. These variants included 2 large deletions, 19 frameshifts, and 12 stop-codons, all of which had not been previously described in the databases. In 10 families, six new probably pathogenic variants in the PKD2 gene were identified. These included three substitutions; two deletions, one of which was intronic and not associated with any family; and one duplication. A total of 11 missense variants in the PKD1 gene were grouped in 14 families and classified as probably pathogenic. We found that 33 VUS were grouped into 18 families and were not described in the databases, while another 15 were without grouping, and there was only 1 in the PKD2 gene. Some of these variants were present in patients with a different pathogenic variant (described or not), and the variant was probably benign. Renal survival curves were compared to nonsense versus missense variants on the PKD1 gene to check if there were any differences. A group of 328 patients with a nonsense variant was compared with a group of 264 with a missense variant; mean renal survival for truncated variants was lower (53.1 ± 0.46 years versus non-truncated variant 59.1 ± 1.36 years; Log Rank, Breslow, and Tarone Ware, p < 0.05). Conclusions: To learn more about ADPKD, it is necessary to understand genetics. By describing new genetic variants, we are approaching creation of an accurate genetic map of the disease in our country, which could have prognostic and therapeutic implications in the future.

[Not Available]. / Estudio del impacto del índice de masa corporal pretrasplante sobre el pronto funcionamiento del injerto renal.

Introducción: la obesidad y el sobrepeso presentan efectos adversos sobre la salud, lo que contribuye a la aparición de enfermedades metabólicas y cardiovasculares que ponen en peligro la integridad del injerto.Objetivo: investigar la influencia del IMC pretrasplante renal sobre el funcionamiento del injerto renal al año de trasplante mediante el estudio de cuatro métodos distintos de medir la filtración glomerular.Material y métodos: en este trabajo se ha seguido a 1.336 pacientes de ambos sexos trasplantados renales; se les realizaron mediciones pretrasplante y postrasplante de parámetros bioquímicos, mediciones antropométricas y función renal mediante medidas de filtrado glomerular.Resultados: a mayor índice de masa corporal pretrasplante se produce una disminución del filtrado glomerular medido por cuatro métodos distintos, así como mayor porcentaje de rechazos.Conclusiones: un IMC elevado pretrasplante contribuye a la disfunción del injerto, a una disminución del filtrado glomerular y a complicaciones del injerto en el primer año postrasplante.

[Assessment of lipid profiles and bone mineral density in renal transplant patients]. / VALORACIÓN DEL PERFIL LIPÍDICO Y DE LA DENSIDAD MINERAL ÓSEA EN PACIENTES TRASPLANTADOS RENALES.

INTRODUCTION: Alterations in lipid metabolism and bone mineral metabolism disturbances are common disorders among renal transplant patients, contributing to the apparition of oxidative metabolic and cardiovascular diseases that threaten the integrity of the graft. AIMS: Describe and observe the evolution of alterations in bone mineral density (BMD) and lipid abnormalities in a population of kidney transplant patients. MATERIAL AND METHOD: The samples consisted of 119 kidney transplant patients of both sexes, measurements were performed pretransplant and posttransplant for five years of biochemical parameters, anthropometric measurements and measurement of bone mineral density at the lumbar spine, femur and radioulnar. RESULTS: During the five years after transplantation a significant increase in biochemical parameters, BMI, dyslipidemia, diabetes and hypertension occurs. At six months there is a high percentage of patients with pathologic BMD increase by 4.1% per year of transplantation. CONCLUSIONS: After kidney transplantation, a large increase of hyperlipidemia associated with a characteristic pattern of altered lipid with elevated total cholesterol, low density lipoprotein, high density lipoprotein, and the resulting increase in triglycerides, occurs despite statin therapy, leading to an increase in risk factors for diabetes, hypertension, diseases and cardiovascualres further loss of bone mass which carries a high risk of serious fractures occurs, threatening kidney graft and quality of life of patients.

Introducción: las alteraciones del metabolismo lipídico y del metabolismo mineral óseo son trastornos frecuentes entre los pacientes trasplantados renales, lo que contribuye a la aparación de enfermedades matabólicas y cardiovasculares que ponen en peligro la integridad del injerto. Objetivo: describir y observar la evolución de las alteraciones de la densidad mineral ósea (DMO) y las alteraciones lipídicas en una población de pacientes trasplantados renales. Material y método: en este trabajo se ha seguido a 119 pacientes de ambos sexos trasplantados renales, a los cuales se les realizaron mediciones pretrasplante y postrasplante durante cinco años de parámetros bioquímicos, mediciones antropométricas y de la densidad mineral ósea en columna lumbar, fémur y radio-cubital. Resultados: durante los cinco años tras el trasplante se produce un importante aumento de parámetros bioquímicos, IMC, dislipemia, diabetes e hipertensión arterial. A los seis meses existe un alto porcentaje de pacientes con DMO patológica, aumentando un 4,1% al año del trasplante. Conclusiones: tras el trasplante se produce un gran incremento de la hiperlipidemia que se asocia con un patrón característico de alteración de lípidos con elevación del colesterol total, lipoproteínas de baja densidad, lipoproteínas de alta densidad, así como el consiguiente aumento de los triglicéridos, a pesar del tratamiento con estatinas, lo que conlleva un aumento en los factores de riego de padecer diabetes, hipertension arterial y enfermedades cardiovasculares; además se produce una pérdida de masa ósea, lo que conlleva un alto riesgo de sufrir fracturas graves, poniendo en peligro el injerto renal y la calidad de vida del paciente.

[OSTEOPOROSIS AND BODY MASS INDEX IN RENAL TRANSPLANT RECIPIENTS]. / OSTEOPOROSIS E ÍNDICE DE MASA CORPORAL EN EL TRASPLANTADO RENAL.

INTRODUCTION: frequently after kidney transplantation there is an increase in weight with a resulting high percent of obesity in these recipients. This combined with a rapid loss of bone mass, a higher prevalence of osteoporosis and fractures is evident than in normal populations. OBJECTIVES: to explore the relationship between body mass index (BMI) and prevalence of osteoporosis in a population of renal transplant recipients. METHODS: prospective longitudinal study design. The study was conducted on 306 kidney transplant recipients. The relationship between weigh and body mass index with femoral and lumbar osteopenia and osteoporosis prevalence at the moment of transplant and at 12 months post was explored. RESULTS: there was a high prevalence of overweight (35.6%) and obese (14.1%) recipients after renal transplant and 1 year after (42.2% and 24.2% respectively). Significant differences were found(p = 0.049) between the weight at the time of transplant and the presence of osteopenia or osteoporosis at the lumbar level one year after, the highest weights were in recipients with osteoporosis. The mean BMI was higher (p = 0.028) in osteoporotic patients (26.59 kg/m2) than in patients with osteopenia (24.23 kg/m2). CONCLUSION: results seem to be consistent with recent studies in the general population showing excessive weight as a possible factor detrimental to the bone health.

Introducción y objetivos: tras el trasplante renal es frecuente un aumento de peso, así como un elevado porcentaje de obesidad en estos pacientes. Por otro lado, tras el trasplante se produce una pérdida de la masa ósea, siendo la prevalencia de osteoporosis y fracturas óseas mayor que en la población general. Objetivos: explorar la relación entre el índice de masa corporal y la prevalencia de osteopenia y osteoporosis en una población de trasplantados renales. Material y método: estudio longitudinal prospectivo sobre una muestra de 306 trasplantados renales. Se exploraron las relaciones entre el peso y el índice de masa corporal con la prevalencia de osteopenia y osteoporosis a nivel femoral y lumbar en el momento del trasplante y a los 12 meses del mismo. Resultados: se halló una alta prevalencia de sobrepeso (35,6%) y obesidad (14,1%) tras el trasplante renal y al año del mismo (42,2% y 24,2%, respectivamente). Se hallaron diferencias estadísticamente significativas (p = 0,049) entre el peso en el momento del trasplante y la presencia de osteopenia u osteoporosis al año del mismo a nivel lumbar, siendo el peso medio más elevado entre los pacientes con osteoporosis. La media del IMC fue más elevada (p = 0,028) en los pacientes osteoporóticos (26,59 kg/m2) que en los pacientes con osteopenia (24,23 kg/m2). Conclusiones: nuestros resultados parecen estar en concordancia con recientes estudios realizados en la población general, que muestran el sobrepeso como un posible factor perjudicial para el hueso.

[Longitudinal study of weight and body mass index after renal transplantation during 5 years of evolution]. / Estudio longitudinal del peso e índice de masa corporal tras el trasplante renal durante 5 años de evolución.

INTRODUCTION: Gain weight after transplantation is relatively common, also tends to be multifactorial and can be influenced by glucocorticoids and immunosuppressive medications, delayed graft function and cause serious health complications. OBJECTIVES: Assess changes in weight, degree of obesity and body mass index as well as the effect of immunosuppressive treatment over these 5 years after kidney transplantation. METHODS: The samples were 119 kidney transplant recipients, 70 men and 49 women, that attended the query post for five years. All patients were measured Pretransplant and post (from 1st year to the 5th year) weight, height and body mass index calculated by the formula weight/size2 relating it to immunosuppressive treatment taking. RESULTS: There is a considerable increase of body mass index, weight and degree of obesity in the first year after transplantation to increase more slowly in the next four years. The type of immunosuppressive treatment influence the weight and degree of obesity that occurs in this period of time. CONCLUSIONS: A high prevalence there are overweight and obesity after the transplant especially during the first year. A year patients earn an average of 6.6 kg in weight and an average of 2.5 kg/m2 in their BMI. During treatment should minimize doses of steroids and include dietary treatment and adequate physical exercise.

Introducción: El aumento de peso después del trasplante es relativamente común, además suele ser multifactorial y suele estar influenciado por glucocorticoides y los medicamentos inmunosupresores, pudiendo retrasar la funcion del injerto y provocar complicaciones graves de salud. Objetivos: Evaluar los cambios en el peso, grado de obesidad e índice de masa corporal asi como el efecto que el tratamiento inmunosupresor produce sobre estos 5 años postrasplante renal sobre estos. Métodos: La muestra estuvo formada por 119 pacientes trasplantados renales, 70 hombres y 49 mujeres, trasplantados renales, que asistieron durante cinco años a la consulta postrasplante. A todos los pacientes se realizaron mediciones pretrasplante y postrasplante (desde el 1º año hasta el 5º año) de peso, altura e índice de masa corporal calculado mediante la fórmula peso/talla2 relacionándolo con el tratamiento inmunosupresor que tomaban. Resultados: Existe un aumento considerable del índice de masa corporal, peso y grado de obesidad en el primer año tras el trasplante aumentando mas lentamente en los siguientes cuatro años. El tipo de tratamiento inmunosupresor influencia el peso y grado de obesidad que se produce en este periodo de tiempo. Conclusiones: Hay una elevada prevalencia sobrepeso y obesidad tras el trasplante especialmente durante el primer año. Al año los pacientes ganan una media de 6,6 kg de peso y una media de 2,5 kg/m2 en su IMC. Durante el tratamiento se debe minimizar las dosis de esteroides e incluir tratamiento dietético y ejercicio físico adecuado.

[Study and prevalence of post-transplant diabetes mellitus; analysis on a group of kidney transplant recipients]. / Estudio y prevalencia de la diabetes mellitus postrasplante; análisis en un grupo de pacientes trasplantados renales.

INTRODUCTION: The onset of post-transplant diabetes mellitus (PTDM) among kidney recipients is associated with an increased risk of graft failure and high rates of morbidity and mortality. Minimize the risk of PTDM is a priority for improving long-term survival rates. Aims. This study aims to assess the prevalence of PTDM in a renal transplant patient population, to identify risk factors and assess the graft and patient survival. METHODS: The sample consisted of 112 renal transplant patients , 69 men and 43 women , renal transplant , who attended for five years post-transplant consultation. Were analyzed as potential risk factors for PTDM : age , sex, body mass index (BMI ) , obesity , VHC , hypertension, dyslipidemia , total cholesterol (TC) , serum triglyceride and immunosuppressive therapy ( cyclosporine , tacrolimus , mycophenolate mofetil and sirolimus ), also the prevalence of acute rejection episodes was evaluated. RESULTS: The prevalence of PTDM was 24.2 %, compared with 85 patients (75.8%) with standard glucose (PGN) . PTDM patients showed a higher BMI , a higher percentage of overweight , dyslipidemia , total cholesterol levels , triglycerides and performed a greater percentage of patients with PDMPT including Mycophenolate mofetil was administered. CONCLUSIONS: There is a high incidence of PTDM in kidney recipients , the importance of weight control and strict adherence to all identified risk factors , as well as in minimizing the doses of immunosuppressive therapies to prevent the onset of PTDM.

Introducción: La aparición de la diabetes mellitus postrasplante (DMPT) entre los receptores renales se asocia con un mayor riesgo de fracaso del injerto y altas tasas de morbimortalidad. Minimizar el riesgo de DMPT es una prioridad para la mejora a largo plazo de las tasas de supervivencia. Objetivos: Este estudio tiene como objetivo evaluar la prevalencia de DMPT en una población de paciente trasplantados renales, para identificar los factores de riesgo y evaluar el injerto y supervivencia de los pacientes. Métodos: La muestras estuvo formada por 112 pacientes trasplantados renales, 69 hombres y 43 mujeres, trasplantados renales, que asistieron durante cinco años a la consulta postrasplante. Se analizaron como posibles factores de riesgo para DMPT: edad, sexo, índice de masa corporal (IMC), sobrepeso, hepatitis C, hipertensión, dislipemia, colesterol total (CT), triglicéridos en suero y terapia inmunosupresora (Ciclosporina, tacrolimus, micofenolato mofetil y sirolimus), también se evaluó la prevalencia de episodios de rechazo agudo. Resultados: La prevalencia de PTDM fue del 24,2%, frente a 85 pacientes (75,8%) con glucosa normalizada (PGN). Los pacientes con DMPT mostraron un IMC mayor, un porcentaje mayor de sobrepeso, dislipemias, niveles colesterol total, triglicéridos y se presento un mayor porcentaje de pacientes con PDMPT entre los que se administraron Micofenolato mofetil. Conclusiones: Existe una alta incidencia de DMPT en receptores renales, la importancia del control de peso y de un seguimiento estricto para todos los factores de riesgo identificados, asi como una minimización en las dosis de tratamientos inmunosupresores para prevenir la aparición de DMPT.

[Effect of cinacalcet on parathyroid hormone level in hypercalcemic hyperparathyroidism of patients with renal transplantation]. / Efecto de cinacalcet sobre la hormona paratiroidea en el hiperparatiroidismo hipercalcémico del trasplantado renal.

BACKGROUND AND OBJECTIVES: Cinacalcet reduces parathyroid hormone (PTH) levels in uremic hyperparathyroidism (HPT), and in renal transplantation it is useful in the management of HPT with hypercalcemia. Our main aim is to evaluate if cinacalcet administered once daily, reduces and maintains reduced PTH levels for 24 hours in renal transplant recipients with HPT and hypercalcemia. PATIENTS AND METHOD: We studied PTH levels and other bone biomarkers in two groups of renal transplant recipients: one with HPT and hypercalcemia (Group 1), another without alteration of mineral metabolism (Group 2), and a third group of healthy volunteers (Group 3): 35 subjets. Group 1 received a single dose of 60 mg of cinacalcet at 9 am. In all the groups we withdrew blood samples at 8, 10, 11, 12, 13, 19 hours (day 1) and 9 am the following day (day 2), determining levels of PTH and bone biomarkers. RESULTS: In Group 1, basal PTH levels decreased shortly after dispensing cinacalcet (basal PTH level 237 [86.7] versus 10 hour level 113 [54.7] p<0.05), objectifying a progressive increase to a similar level to baseline after 24 hours of the administration (day 2 9h PTH level 241 [117.4] ns). In Group 2, comparisons among PTH mean levels were not different at any time. In Group 3, the mean baseline PTH level was higher than that observed at 10h (47 [22.7] versus 28 [11.2] p<0.05) and other comparisons were not significant. Beta-ctx was higher at baseline in the three groups in comparison with levels at 11, 12, 13 and 19 hour, and similar to that at 10 am on day 1 and 9 am on day 2. With respect to other bone biomarkers, no differences were observed. CONCLUSION: Cinacalcet administered once daily reduces PTH in renal transplant recipients with HPT and hypercalcemia, without holding it for 24 hours.

Varices esofágicas secundarias a trombosis de vena cava superior por catéter yugular para hemodiálisis / Oesophageal varices secondary to thrombosis of the superior vena cava due to jugular haemodialysis catheter

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Estudio del impacto del índice de masa corporal pretrasplante sobre el pronto funcionamiento del injerto renal / Studying the impact of body mass index on pretransplant early renal graft function

Introducción: la obesidad y el sobrepeso presentan efectos adversos sobre la salud, lo que contribuye a la aparición de enfermedades metabólicas y cardiovasculares que ponen en peligro la integridad del injerto. Objetivo: investigar la influencia del IMC pretrasplante renal sobre el funcionamiento del injerto renal al año de trasplante mediante el estudio de cuatro métodos distintos de medir la filtración glomerular. Material y métodos: en este trabajo se ha seguido a 1.336 pacientes de ambos sexos trasplantados renales; se les realizaron mediciones pretrasplante y postrasplante de parámetros bioquímicos, mediciones antropométricas y función renal mediante medidas de filtrado glomerular. Resultados: a mayor índice de masa corporal pretrasplante se produce una disminución del filtrado glomerular medido por cuatro métodos distintos, así como mayor porcentaje de rechazos. Conclusiones: un IMC elevado pretrasplante contribuye a la disfunción del injerto, a una disminución del filtrado glomerular y a complicaciones del injerto en el primer año postrasplante (AU)

Introduction: Obesity and overweight have adverse health effects contributing to the presence of oxidative metabolic and cardiovascular diseases that threaten the integrity of the graft. Objective: To investigate the influence of body mass index on pre transplant graft function one year after transplant by studying four different methods of measuring the glomerular filtration rate. Material and methods: The sample consisted of 1336 kidney transplant patients of both sexes, measurements were performed pre transplant and post transplant of biochemical parameters, anthropometric measurements and kidney function by glomerular filtration steps. Results: When an increased body mass index pretransplant occurs, there is a decrease in glomerular filtration rate measured by four different methods and greater percentage of rejections. Conclusions: A high body mass index pretransplant contributes to graft dysfunction, a decrease in glomerular filtration rate and graft complications in the first year after transplant (AU)