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1.
Am J Nephrol ; 52(8): 630-641, 2021.
Article in English | MEDLINE | ID: mdl-34518464

ABSTRACT

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.


Subject(s)
Glomerular Filtration Rate , Kidney/physiopathology , Polycystic Kidney, Autosomal Dominant/classification , Polycystic Kidney, Autosomal Dominant/physiopathology , Adult , Female , Humans , Male , Middle Aged , Prognosis , Spain
2.
J Clin Med ; 13(6)2024 Mar 18.
Article in English | MEDLINE | ID: mdl-38541974

ABSTRACT

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.

3.
Nefrologia (Engl Ed) ; 40(1): 53-64, 2020.
Article in English, Spanish | MEDLINE | ID: mdl-31843209

ABSTRACT

BACKGROUND: When estimating the glomerular filtration rate (GFR) in kidney transplant patients, significant differences have been found between MDRD and the 2009 CKD-EPI equations, and reference techniques. OBJECTIVE: To analyse and compare the performance of MDRD and the 2009 and 2012 CKD-EPI equations against 51Cr-EDTA plasma clearance in measuring GFR in 270 kidney transplant patients after one year. RESULTS: The mean measured GFR was 43.0±11.4 (18.2-79.4)ml/min/1.73m2, with creatinine levels of 1.42±0.46 (0.60-4.33)mg/dl and cystatin C levels of 1.45±0.53 (0.42-3.48)mg/l. This correlated moderately with creatinine (r=-0.61, P<.001) and cystatin C (r=-0.52, P<.001). Using linear regression techniques, it was found that creatinine, cystatin C, gender and age only explained 52% of GFR total variance. All equations overestimated GFR, with a mean bias of +11.1ml/min/1.73m2 for MDRD, +16.4ml/min/1.73m2 for 2009-CKD-EPI, +15ml/min/1.73m2 for CKD-EPI with cystatin C, and +14.1ml/min/1.73m2 for 2012-CKD-EPI with creatinine and cystatin C. eGFR by MDRD and the 2009 CKD-EPI equation correlated better with 51Cr-EDTA than CKD-EPI with creatinine and/or cystatin C. The overestimations were negatively correlated with creatinine and cystatin C levels, most significantly for CKD-EPI with creatinine and/or cystatin C when GFR was greater than 60ml/min/1.73m2. CONCLUSIONS: The 2012 CKD-EPI equations with creatinine and/or cystatin C significantly overestimate GFR in stage 1 and 2 chronic kidney disease. The MDRD equations is therefore recommended in these cases. The reference method used to measure GFR seems to heavily influence the bias of the equations.


Subject(s)
Creatinine/blood , Cystatin C/blood , Glomerular Filtration Rate/physiology , Kidney Transplantation , Renal Insufficiency, Chronic/physiopathology , Adolescent , Adult , Age Factors , Aged , Algorithms , Diet Therapy , Female , Humans , Linear Models , Male , Middle Aged , Renal Insufficiency, Chronic/blood , Retrospective Studies , Sensitivity and Specificity , Sex Factors , Young Adult
4.
Nefrologia (Engl Ed) ; 40(5): 536-542, 2020.
Article in English, Spanish | MEDLINE | ID: mdl-32505451

ABSTRACT

OBJECTIVE: To demonstrate that the variant not described in PKD1 gene c.7292T> A, identified in four families from the Alpujarra in Granada, is the cause of autosomal dominant polycystic kidney disease (ADPKD). This variant consists of a transversion of thymine (T) by adenine (A) that at the level of the Polycystin 1 protein produces a change of leucine (Leu / L) by Glutamine (Gln / Q) in position 2431 (p.Leu2431Gln). METHOD: Sociodemographic and clinical variables were registered using clinical histories, genealogical trees, ultrasounds and genetic analysis to ADPKD and healthy individuals belonging to these families in the context of segregation study. RESULTS: All PKD individuals carried the c.7292T>A variant in heterozygosis, whereas healthy ones did not. Among all ADPKD patients, 62.9% were women. ADPKD diagnosis was made at 29.3 ± 15.82 years, after having the first child in 64.8%. The main reasons for diagnosis were family history and hematuria episodes. The onset of renal replacement therapy (RRT) occurred at 55.8 ± 7.62 years (range 44-67), and death at 63 ± 92.2 years (range 48-76), being the cause unknown, cardiovascular and insufficiency kidney the most frequent; the median of renal survival was established at 58.5 ± 0.77 years and the median survival of patients at 67.2 ± 3.54 years. No differences in kidney and patient survivals were observed according to sex. Among deceased patients, 52.2% required RRT and 94.4% suffered from renal failure. CONCLUSIONS: The variant c.7292T>A in PKD1 gene is responsible for the disease, and its distribution in the Alpujarra region of Granada suggests a founder effect. In ADPKD it is necessary to perform segregation studies that help us to reclassify genetic variants, in this case from indeterminate to pathogenic.


Subject(s)
Mutation , Polycystic Kidney, Autosomal Dominant/genetics , TRPP Cation Channels/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Spain , Young Adult
5.
Nutr Hosp ; 35(5): 1079-1084, 2018 Oct 05.
Article in Spanish | MEDLINE | ID: mdl-30307290

ABSTRACT

INTRODUCTION: the appearance of metabolic syndrome (MS) among renal recipients is one of the greatest post-transplant complications and is associated with an increased risk of graft failure and high rates of obesity and new onset diabetes. OBJECTIVE: the objective of this work is to identify the relationship between the glomerular filtration rate measured by two different methods and the components of the metabolic syndrome and their combinations in kidney transplant patients according to gender. MATERIAL AND METHOD: the samples consisted of 500 kidney transplant recipients, of whom 190 had MS, 121 men and 69 women. All subjects underwent clinical evaluation and blood sampling for laboratory measurements. The MS was determined according to the criteria of the National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP-III). Renal function was estimated using AMDRD equations and CrS determinations. RESULTS: the average age was 55.5 years. The prevalence of MS was significantly higher in men (23.1% < vs 9.8%). High blood pressure (HBP) was the most observed component of MS. Significant correlations (Pearson, p < 0.05) between TFG-AMDRD and TFG CrS and metabolic markers were observed more in men than in women. The body mass index (BMI) was significantly higher in women than in men. CONCLUSIONES: the decrease in renal function associated with the components of MS, HBP and obesity represent a high risk of adverse cardiovascular events and graft rejections.


INTRODUCCIÓN: la aparición del síndrome metabólico (SM) entre los receptores renales es una de las mayores complicaciones postrasplante y se asocia con un mayor riesgo de fracaso del injerto y altas tasas de obesidad y diabetes de nueva aparición. OBJETIVO: el objetivo de este trabajo es identificar la relación entre la tasa de filtración glomerular medida por dos métodos distintos y los componentes del síndrome metabólico y sus combinaciones en pacientes trasplantados renales según género. MATERIAL Y MÉTODO: la muestra estuvo formada por 500 pacientes trasplantados renales, de los cuales 190 padecían SM, 121 hombres y 69 mujeres. Todos los sujetos se sometieron a evaluación clínica y toma de muestras de sangre para mediciones de laboratorio. El SM se determinó según los criterios del National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP-III). La función renal se estimó usando ecuaciones AMDRD y determinaciones de creatinina sérica (CrS). RESULTADOS: la media de edad fue de 55,5 años. La prevalencia del SM fue significativamente mayor en hombres (23,1% < vs. 9,8%). La hipertensión arterial (HTA) fue el componente del SM más observado. Se observaron correlaciones significativas (Pearson; p < 0,05) entre TFG-AMDRD y TFG CrS y marcadores metabólicos más en hombres que en mujeres. El índice de masa corporal (IMC) fue significativamente mayor en mujeres que en hombres. CONCLUSIONES: la disminución de la función renal asociada con los componentes del SM, la HTA y la obesidad representan un riesgo elevado de eventos cardiovasculares adversos y rechazos del injerto.


Subject(s)
Kidney Transplantation/adverse effects , Metabolic Syndrome/epidemiology , Postoperative Complications/epidemiology , Adult , Aged , Female , Graft Rejection , Humans , Kidney Function Tests , Male , Metabolic Syndrome/physiopathology , Middle Aged , Postoperative Complications/physiopathology , Prevalence , Risk Factors , Sex Characteristics
6.
Nefrologia (Engl Ed) ; 38(3): 297-303, 2018.
Article in English, Spanish | MEDLINE | ID: mdl-29132985

ABSTRACT

INTRODUCTION: KDRI / KDPI are tools use in kidney donor evaluation. It has been proposed as a substitute of, or complementary to preimplantation renal biopsy. These scores has not been validated in Spain. OBJECTIVE: 1) To investigate the concordance between KDPI and histological scores (preimplantation renal biopsy) and 2) To assess the relationship between KDRI, KDPI and histological score on graft survival in the expanded criteria donors group. METHODOLOGY: Retrospective cohort study from 1 January 1998 until 31 December 2010. RESULTS: During the study 120 donors were recruited, that resulted in 220 preimplantation renal biopsies. 144 (65%) grafts were considered suitable for kidney transplantation. 76 (34.5%) were discarded. Median follow up has been 6.4 years (sd 3.9). Median age 63.1 years (sd 8.2), males (145; 65.9%), non-diabetic (191; 86.8%) and without another cardiovascular risk factors (173; 78.6%). 153 (69.5%) donors died of cerebrovascular disease. There were significant differences in KDRI/KDPI score in both groups 1.56/89 (sd 0.22) vs 1.66/93 (sd 0.15), p<0.01). The KDPI showed moderate concordance and correlation with the histological score (AUC 0.64 / correlation coefficient 0.24, p <0.01). KDPI (HR 24.3, p<0.01) and KDRI (HR 23.3, p<0.01) scores were associated with graft survival in multivariate analysis. CONCLUSION: 1) KPDI and histological scores show moderate concordance. The utility of both scores as combined tools it has to be determined. 2) KDPI score, and especially KDRI score, are valid for estimating graft survival and combined with the biopsy can help to individualized decision making in the expanded criteria donors pool.


Subject(s)
Donor Selection/methods , Kidney Transplantation , Tissue and Organ Procurement/methods , Cohort Studies , Female , Humans , Male , Middle Aged , Retrospective Studies , Risk Assessment
7.
Nefrologia (Engl Ed) ; 38(2): 190-196, 2018.
Article in English, Spanish | MEDLINE | ID: mdl-29471960

ABSTRACT

INTRODUCTION: Although autosomal dominant polycystic kidney disease is the most common hereditary kidney disease, available data tend to be limited to after initiation of renal replacement therapy. OBJECTIVE: To ascertain an overview of autosomal dominant polycystic kidney disease within the health area of Granada in southern Spain. MATERIAL AND METHODS: From January 2007 to December 2016, we collected clinical, family and demographic information about all patients with autosomal dominant polycystic kidney disease, irrespective of whether or not they were treated with RRT, in the Granada health area. The computer software SPSS 15.0 and GenoPro were used. RESULTS: 50.6% of the 1,107 diagnosed patients were men. 99.1% were Caucasian and 4-6 generations/family were studied. The geographical distribution was heterogeneous. There was no family history in 2.43%. The mean age of diagnosis was 34.0±17.80 years and the diagnosis was made after having offspring in 57.7% of cases. The main reason for diagnosis was family history (46.4%). The mean age of initiation of renal replacement therapy was 54.2±11.05 years. 96.3% of the deceased had some degree of renal failure at the time of death. The mean age of death was 60.9±14.10 years, the main cause of death being unknown in 33.5% of cases, followed by cardiovascular (27.8%). CONCLUSIONS: Cases and families were concentrated in certain geographical areas and a significant number of individuals were undiagnosed prior to cardiovascular death or diagnosed late after reproduction. Given that there is currently no curative treatment, the primary prevention strategy of preimplantation genetic diagnosis should play a leading role.


Subject(s)
Polycystic Kidney, Autosomal Dominant/epidemiology , Adolescent , Adult , Age of Onset , Aged , Cardiovascular Diseases/mortality , Cause of Death , Delayed Diagnosis , Disease Management , Female , Genetic Counseling , Humans , Life Expectancy , Male , Middle Aged , Polycystic Kidney, Autosomal Dominant/genetics , Polycystic Kidney, Autosomal Dominant/prevention & control , Polycystic Kidney, Autosomal Dominant/therapy , Prevalence , Renal Replacement Therapy , Spain/epidemiology , Young Adult
9.
Arch Esp Urol ; 69(3): 121-7, 2016 Apr.
Article in Spanish | MEDLINE | ID: mdl-27068370

ABSTRACT

OBJECTIVE: To compare the characteristics, clinical course, and survival of pairs of renal grafts from the same donor, with special interest in cold ischemia times (CIT) as a risk factor for graft survival. METHODS: We retrospectively reviewed paired grafts originating from the same cadaver donor from our prospectively recorded database of kidney transplants, from 1987 to 2015. We selected and divided them into two groups depending on whether they corresponded to the first or second graft. RESULTS: We studied a total of 860 paired kidneys. Mean CIT for the first and second groups were 15.12 and 19.16 hours, respectively. In the second group we observed higher incidences of acute tubular necrosis and initial delayed graft function (59.9% vs. 69.4% and 54.9% vs. 63.5%, respectively; p<0.001). No significant differences in either creatinine clearance rate or the rate of dialysis were observed between the two groups. No difference was found between the first and second groups in terms of graft survival (18.4 vs. 18.1 years, respectively; log-rank, p=0.667), and no differences were found by dividing the grafts into different categories according to their CIT (<14, 14-17, 17-20, >20 hours). For the set of grafts studied, CIT did not act as a risk factor for graft survival (hazard ratio [HR]=1.014; p=0.312). CONCLUSIONS: The proportion of ATN and DGF were greater in second transplants. However, there were no differences in long-term graft survival. Furthermore, we found no evidence that a CIT for less than 24 hours acted as a risk factor to graft survival.


Subject(s)
Cold Ischemia , Graft Survival , Kidney Transplantation , Female , Humans , Male , Middle Aged , Retrospective Studies , Risk Factors , Tissue Donors
12.
Nutr Hosp ; 33(4): 394, 2016 Jul 19.
Article in Spanish | MEDLINE | ID: mdl-27571669

ABSTRACT

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.


Subject(s)
Body Mass Index , Kidney Transplantation , Adolescent , Adult , Aged , Aged, 80 and over , Female , Glomerular Filtration Rate , Humans , Kidney Failure, Chronic/metabolism , Kidney Failure, Chronic/physiopathology , Kidney Failure, Chronic/surgery , Male , Middle Aged , Obesity/complications , Overweight/complications , Preoperative Period , Treatment Outcome , Young Adult
13.
Nutr Hosp ; 32(2): 872-7, 2015 Aug 01.
Article in Spanish | MEDLINE | ID: mdl-26268123

ABSTRACT

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.


Subject(s)
Body Mass Index , Kidney Transplantation , Osteoporosis/epidemiology , Osteoporosis/etiology , Body Weight , Bone Density , Bone Diseases, Metabolic/epidemiology , Bone Diseases, Metabolic/etiology , Female , Humans , Kidney Transplantation/adverse effects , Longitudinal Studies , Male , Obesity/epidemiology , Overweight/epidemiology , Population Surveillance , Prevalence
15.
Nefrologia ; 35(4): 363-73, 2015.
Article in English, Spanish | MEDLINE | ID: mdl-26306956

ABSTRACT

INTRODUCTION: Secondary hyperparathyroidism is highly prevalent in kidney transplant recipients, and commonly results in hypercalcaemia; an association to osteopenia and bone fractures has also been observed. Paricalcitol has proved effective to control secondary hyperparathyroidism in chronic kidney disease in both dialysed and non-dialysed patients, with a low hypercalcaemia incidence. Currently available experience on paricalcitol use in kidney transplant recipients is scarce. Our main aim was to show the effect of paricalcitol on mineral bone metabolism in kidney transplant recipients with secondary hyperparathyroidism. MATERIAL AND METHODS: A retrospective multicentre study in kidney transplant recipients aged>18 years with a 12-month or longer post-transplantation course, stable renal function, having received paricalcitol for more than 12 months, with available clinical follow-up for a 24-month period. RESULTS: A total of 69 patients with a 120 ± 92-month post-transplantation course were included. Baseline creatinine was 2.2 ± 0.9 mg/dl y GFR-MDRD was 36 ± 20 ml/min/1.73 m(2). Paricalcitol doses were gradually increased during the study: baseline 3.8 ± 1.9 µg/week, 12 months 5.2 ± 2.4 µg/week; 24 months 6.0 ± 2.9 µg/week (P<.001). Serum PTH levels showed a significant fast decline: baseline 288 ± 152 pg/ml; 6 months 226 ± 184 pg/ml; 12 months 207 ± 120; 24 months 193 ± 119 pg/ml (P<.001). Reduction from baseline PTH was ≥30% in 42.4% of patients at 12 months y in 65.2% of patients at 24 months. Alkaline phosphatase showed a significant decrease in first 6 months followed by a plateau: baseline 92 ± 50 IU/l; 6 months 85 ± 36 IU/l, 12 months 81 ± 39 IU/l (P<.001). Overall, no changes were observed in serum calcium and phosphorus, and in urine calcium excretion. PTH decline was larger in patients with higher baseline levels. Patients with lower baseline calcium levels showed significantly increased levels (mean increase was 0.5-0.6 mg/dl) but still within normal range, whereas patients with baseline calcium>10mg/dl showed gradually decreasing levels. Fifteen (21.7%) patients had received prior calcitriol therapy. When shifted to paricalcitol, such patients required paricalcitol doses significantly larger than those not having received calcitriol. Paricalcitol was used concomitantly to cinacalcet in 11 patients with significant PTH reductions being achieved; clinical course was similar to other patients and paricalcitol doses were also similar. CONCLUSIONS: Paricalcitol is an effective therapy for secondary hyperparathyroidism in kidney transplant recipients. Overall, no significant changes were observed in calcium and phosphorus levels or urinary excretion. Patients having previously received calcitriol required higher paricalcitol doses. When used in patients receiving cinacalcet, paricalcitol results in a significant PTH fall, with paricalcitol doses being similar to those used in patients not receiving cinacalcet.


Subject(s)
Bone Density Conservation Agents/pharmacology , Bone and Bones/drug effects , Calcium/metabolism , Ergocalciferols/pharmacology , Hyperparathyroidism, Secondary/drug therapy , Kidney Transplantation , Phosphorus/metabolism , Postoperative Complications/drug therapy , Adult , Aged , Alkaline Phosphatase/blood , Bone Density Conservation Agents/administration & dosage , Bone Density Conservation Agents/therapeutic use , Bone Diseases, Metabolic/etiology , Bone Diseases, Metabolic/prevention & control , Bone and Bones/metabolism , Calcitriol/therapeutic use , Cinacalcet/therapeutic use , Drug Substitution , Drug Therapy, Combination , Ergocalciferols/administration & dosage , Ergocalciferols/therapeutic use , Female , Follow-Up Studies , Humans , Hyperparathyroidism, Secondary/etiology , Immunosuppressive Agents/therapeutic use , Male , Middle Aged , Parathyroid Hormone/blood , Postoperative Complications/etiology , Retrospective Studies
16.
Med Clin (Barc) ; 123(3): 97-9, 2004 Jun 19.
Article in Spanish | MEDLINE | ID: mdl-15225475

ABSTRACT

BACKGROUND AND OBJECTIVE: Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine. Three disease forms exist, infantile, juvenile or late-onset, and ocular nonnephropathic cystinosis, delineated on the basis of severity of symptoms and age of onset. The knowledge of early clinic manifestations and the onset of the appropriate therapy delay the evolution of the disease and improve the general conditions. Therefore, it is necessary to develop a sensible diagnostic method for early detection and treatment of the disease. CLINICAL CASE AND METHODS: The leukocyte cystine content was determined by HPLC in a 42 years old female patient after renal transplantation, and with the clinical characteristic complications of the intermediate cystinosis. Equally, the molecular characterization of the structural defects of the cystinosin (CTNS) gene was made in the patient and in all family members. RESULTS: By measuring of the leukocyte cystine content in the patient and family members, we have determined 5 family members as heterozygous. This result was confirmed by molecular analysis that showed the approximately 65 kb deletion in the 5 family members. The patient was heterozygous for the approximately 65 kb deletion, and the second alteration was not determined. CONCLUSIONS: We presented a useful diagnostic method, based in the determination of cystine content of polymorphonuclear leukocytes, which permits to detect the heterozygous individuals.


Subject(s)
Cystine/blood , Cystinosis/diagnosis , Leukocytes/chemistry , Adult , Amino Acid Transport Systems, Neutral , Chromatography, High Pressure Liquid , Female , Genetic Carrier Screening , Glycoproteins/genetics , Humans , Membrane Proteins/genetics , Membrane Transport Proteins , Pedigree
18.
Nutr. hosp ; 35(5): 1079-1084, sept.-oct. 2018. graf, tab
Article in Spanish | IBECS (Spain) | ID: ibc-179912

ABSTRACT

Introducción: la aparición del síndrome metabólico (SM) entre los receptores renales es una de las mayores complicaciones postrasplante y se asocia con un mayor riesgo de fracaso del injerto y altas tasas de obesidad y diabetes de nueva aparición. Objetivo: el objetivo de este trabajo es identificar la relación entre la tasa de filtración glomerular medida por dos métodos distintos y los componentes del síndrome metabólico y sus combinaciones en pacientes trasplantados renales según género. Material y método: la muestra estuvo formada por 500 pacientes trasplantados renales, de los cuales 190 padecían SM, 121 hombres y 69 mujeres. Todos los sujetos se sometieron a evaluación clínica y toma de muestras de sangre para mediciones de laboratorio. El SM se determinó según los criterios del National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP-III). La función renal se estimó usando ecuaciones AMDRD y determinaciones de creatinina sérica (CrS).Resultados: la media de edad fue de 55,5 años. La prevalencia del SM fue significativamente mayor en hombres (23,1% < vs. 9,8%). La hipertensión arterial (HTA) fue el componente del SM más observado. Se observaron correlaciones significativas (Pearson; p < 0,05) entre TFG-AMDRD y TFG CrS y marcadores metabólicos más en hombres que en mujeres. El índice de masa corporal (IMC) fue significativamente mayor en mujeres que en hombres. Conclusiones: la disminución de la función renal asociada con los componentes del SM, la HTA y la obesidad representan un riesgo elevado de eventos cardiovasculares adversos y rechazos del injerto


Introduction: the appearance of metabolic syndrome (MS) among renal recipients is one of the greatest post-transplant complications and is associated with an increased risk of graft failure and high rates of obesity and new onset diabetes. Objective: the objective of this work is to identify the relationship between the glomerular filtration rate measured by two different methods and the components of the metabolic syndrome and their combinations in kidney transplant patients according to gender. Material and method: the samples consisted of 500 kidney transplant recipients, of whom 190 had MS, 121 men and 69 women. All subjects underwent clinical evaluation and blood sampling for laboratory measurements. The MS was determined according to the criteria of the National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP-III). Renal function was estimated using AMDRD equations and CrS determinations. Results: the average age was 55.5 years. The prevalence of MS was significantly higher in men (23.1% < vs 9.8%). High blood pressure (HBP) was the most observed component of MS. Significant correlations (Pearson, p < 0.05) between TFG-AMDRD and TFG CrS and metabolic markers were observed more in men than in women. The body mass index (BMI) was significantly higher in women than in men. Conclusions: the decrease in renal function associated with the components of MS, HBP and obesity represent a high risk of adverse cardiovascular events and graft rejections


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Kidney Transplantation/adverse effects , Postoperative Complications/epidemiology , Graft Rejection , Kidney Function Tests , Postoperative Complications/physiopathology , Prevalence , Risk Factors , Sex Characteristics
19.
Med Clin (Barc) ; 138(8): 323-6, 2012 Apr 07.
Article in Spanish | MEDLINE | ID: mdl-21492884

ABSTRACT

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.


Subject(s)
Calcimimetic Agents/therapeutic use , Hypercalcemia/drug therapy , Hyperparathyroidism, Secondary/drug therapy , Kidney Transplantation , Naphthalenes/therapeutic use , Parathyroid Hormone/blood , Adult , Biomarkers/blood , Cinacalcet , Collagen/blood , Drug Administration Schedule , Humans , Hypercalcemia/blood , Hypercalcemia/etiology , Hyperparathyroidism, Secondary/blood , Hyperparathyroidism, Secondary/complications , Kidney Failure, Chronic/complications , Kidney Failure, Chronic/surgery , Middle Aged , Peptide Fragments/blood , Treatment Outcome
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