Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 43
Filtrar
1.
Clin Kidney J ; 17(2): sfad281, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38638342

RESUMEN

Background: The European Renal Association (ERA) Registry collects data on kidney replacement therapy (KRT) in patients with end-stage kidney disease (ESKD). This paper is a summary of the ERA Registry Annual Report 2021, including a comparison across treatment modalities. Methods: Data was collected from 54 national and regional registries from 36 countries, of which 35 registries from 18 countries contributed individual patient data and 19 registries from 19 countries contributed aggregated data. Using this data, incidence and prevalence of KRT, kidney transplantation rates, survival probabilities and expected remaining lifetimes were calculated. Result: In 2021, 533.2 million people in the general population were covered by the ERA Registry. The incidence of KRT was 145 per million population (pmp). In incident patients, 55% were 65 years or older, 64% were male, and the most common primary renal disease (PRD) was diabetes (22%). The prevalence of KRT was 1040 pmp. In prevalent patients, 47% were 65 years or older, 62% were male, and the most common PRDs were diabetes and glomerulonephritis/sclerosis (both 16%). On 31 December 2021, 56% of patients received haemodialysis, 5% received peritoneal dialysis, and 39% were living with a functioning graft. The kidney transplantation rate in 2021 was 37 pmp, a majority coming from deceased donors (66%). For patients initiating KRT between 2012-2016, 5-year survival probability was 52%. Compared to the general population, life expectancy was 65% and 68% shorter for males and females receiving dialysis, and 40% and 43% shorter for males and females living with a functioning graft.

3.
Pediatr Nephrol ; 38(2): 403-415, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-35552824

RESUMEN

BACKGROUND: Primary hyperoxalurias (PHs) are rare genetic diseases that increase the endogenous level of oxalate, a waste metabolite excreted predominantly by the kidneys and also the gut. Treatments aim to improve oxalate excretion, or reduce oxalate generation, to prevent kidney function deterioration. Oxalobacter formigenes is an oxalate metabolizing bacterium. This Phase III, double-blind, placebo-controlled randomized trial investigated the effectiveness of orally administered Oxabact™, a lyophilized O. formigenes formulation, at reducing plasma oxalate levels in patients suffering from PH. METHODS: Subjects (≥ 2 years of age) with a diagnosis of PH and maintained but suboptimal kidney function (mean estimated glomerular filtration rate at baseline < 90 mL/min/1.73 m2) were eligible to participate. Subjects were randomized to receive Oxabact or placebo twice daily for 52 weeks. Change from baseline in plasma oxalate concentration at Week 52 was the primary study endpoint. RESULTS: Forty-three subjects were screened, 25 were recruited and one was discontinued. At Week 52, O. formigenes was established in the gut of subjects receiving Oxabact. Despite decreasing plasma oxalate level in subjects treated with Oxabact, and stable/increased levels with placebo, there was no significant difference between groups in the primary outcome (Least Squares mean estimate of treatment difference was - 3.80 µmol/L; 95% CI: - 7.83, 0.23; p-value = 0.064). Kidney function remained stable in both treatments. CONCLUSIONS: Oxabact treatment may have stabilized/reduced plasma oxalate versus a rise with placebo, but the difference over 12 months was not statistically significant (p = 0.06). A subtle effect observed with Oxabact suggests that O. formigenes may aid in preventing kidney stones. A higher resolution version of the Graphical abstract is available as Supplementary information.


Asunto(s)
Hiperoxaluria Primaria , Hiperoxaluria , Cálculos Renales , Humanos , Hiperoxaluria/terapia , Hiperoxaluria Primaria/terapia , Oxalobacter formigenes/metabolismo , Oxalatos , Cálculos Renales/metabolismo
5.
Pan Afr Med J ; 38: 218, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34046124

RESUMEN

INTRODUCTION: membranoproliferative glomerulo nephritis (MPGN) is a rare kidney disease with a poor prognosis as 50% of patients attend the end stage renal failure after 10 years of follow up. Several factors have been described associated with poor renal prognosis. The aim of our study is to determine the epidemiologic profile and to identify prognostic factors of MPGN. METHODS: our study is retrospective over a period of 16 years (January 1996 - December 2011) including all cases of primary MPGN aged more than 15 years, collected at the nephrology department of Hedi Chaker University Hospital, Sfax, Tunisia. RESULTS: we collected 118 cases of primary MPGN, with mean age of 45 (SD 19) years. The incidence of MPGN has decreased from 10 cases/year between 1996 and 1999 to 5 cases/year between 2008 and 2011. Seventy-nine percent of patients (n=93) had renal failure at the moment of diagnosis (e-GFR less than 60 ml/min/1.73m2;). After a mean follow-up of 51.9 (SD 44) months, progression to end stage renal failure was observed in 43.5% of followed cases (n=20). On univariate analysis, factors associated with death or progression to end stage renal failure were initial renal failure and sclerotic glomeruli (respectively p at 0.040 and 0.032). Multivariate analysis indicated that initial renal failure was significantly correlated with death or progression to end stage renal failure (HR: 0.14, 95% CI (0.033-0.593), p=0.008). CONCLUSION: there has been a decline in the number of cases of MPGN diagnosed in our hospital. The presence of renal failure at diagnosis was associated with death or progression to end stage renal failure.


Asunto(s)
Glomerulonefritis Membranoproliferativa/epidemiología , Fallo Renal Crónico/epidemiología , Adulto , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Glomerulonefritis Membranoproliferativa/complicaciones , Humanos , Fallo Renal Crónico/etiología , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Túnez/epidemiología
6.
Pan Afr Med J ; 38: 137, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33912307

RESUMEN

The treatment of chronic hepatitis C virus (HCV) infection in chronic hemodialysis patients remains an issue of great concern for nephrologists. In 2008 the kidney disease improving global outcomes working group suggested the use of pegylated interferon in end stage kidney disease patients treated by dialysis. Since then, series and some clinical trials on different direct-acting antiviral agents have shown better efficacy and tolerance than interferon-based regimens. Data on the efficacy, tolerance and the right dose of sofosbuvir in this population are still unclear. We report a case of chronic HCV genotype 1b infection in a 47-year-old patient on maintenance hemodialysis successfully treated by a combination of sofosbuvir and ledipasvir for 12 weeks. Evolution was marked by the complete regression of the hepatic cytolysis, a complete and sustained virologic response with HCV viral load undetectable for a 24 months follow-up period. No adverse reaction was found. The treatment of HCV genotype 1 or 4 infection in patients on maintenance hemodialysis is possible with sofosbuvir based regimens with a good efficacy/safety ratio in the absence of current recommended drugs for patients with eGFR<30ml/min/1.73m2. The prescription of sofosbuvir should be encouraged amongst this population in this setting.


Asunto(s)
Antivirales/administración & dosificación , Bencimidazoles/administración & dosificación , Fluorenos/administración & dosificación , Hepatitis C Crónica/tratamiento farmacológico , Diálisis Renal , Sofosbuvir/administración & dosificación , Antivirales/efectos adversos , Bencimidazoles/efectos adversos , Fluorenos/efectos adversos , Estudios de Seguimiento , Genotipo , Tasa de Filtración Glomerular , Hepacivirus/genética , Hepacivirus/aislamiento & purificación , Hepatitis C Crónica/virología , Humanos , Fallo Renal Crónico/terapia , Masculino , Persona de Mediana Edad , Sofosbuvir/efectos adversos , Respuesta Virológica Sostenida
7.
J Hum Genet ; 66(8): 795-803, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33654185

RESUMEN

Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. FSGS is considered as a podocyte disease due to the fact that in the majority of patients with FSGS, the lesion results from defects in the podocyte structure. However, FSGS does not result exclusively from podocyte-associated genes. In this study, we used a genetic approach based on targeted next-generation sequencing (NGS) of 242 genes to identify the genetic cause of FSGS in seven Tunisian families. The sequencing results revealed the presence of eight distinct mutations including seven newly discovered ones: the c.538G>A (p.V180M) in NPHS2, c.5186G>A (p.R1729Q) in PLCE1 and c.232A>C (p.I78L) in PAX2 and five novel mutations in COL4A3 and COL4A4 genes. Four mutations (c.209G>A (p.G70D), c.725G>A (p.G242E), c.2225G>A (p.G742E), and c. 1681_1698del) were detected in COL4A3 gene and one mutation (c.1424G>A (p.G475D)) was found in COL4A4. In summary, NGS of a targeted gene panel is an ideal approach for the genetic testing of FSGS with multiple possible underlying etiologies. We have demonstrated that not only podocyte genes but also COL4A3/4 mutations should be considered in patients with FSGS.


Asunto(s)
Autoantígenos/genética , Colágeno Tipo IV/genética , Colágeno/genética , Glomeruloesclerosis Focal y Segmentaria/genética , Factor de Transcripción PAX2/genética , Adulto , Femenino , Enfermedades Genéticas Congénitas/diagnóstico , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Glomeruloesclerosis Focal y Segmentaria/diagnóstico , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Masculino , Mutación Missense , Linaje , Podocitos/fisiología , Túnez , Adulto Joven
8.
Kidney Int ; 100(1): 182-195, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33359055

RESUMEN

The aims of this study were to determine the frequency of dialysis and kidney transplantation and to estimate the regularity of comprehensive conservative management (CCM) for patients with kidney failure in Europe. This study uses data from the ERA-EDTA Registry. Additionally, our study included supplemental data from Armenia, Germany, Hungary, Ireland, Kosovo, Luxembourg, Malta, Moldova, Montenegro, Slovenia and additional data from Israel, Italy, Slovakia using other information sources. Through an online survey, responding nephrologists estimated the frequency of CCM (i.e. planned holistic care instead of kidney replacement therapy) in 33 countries. In 2016, the overall incidence of replacement therapy for kidney failure was 132 per million population (pmp), varying from 29 (Ukraine) to 251 pmp (Greece). On 31 December 2016, the overall prevalence of kidney replacement therapy was 985 pmp, ranging from 188 (Ukraine) to 1906 pmp (Portugal). The prevalence of peritoneal dialysis (114 pmp) and home hemodialysis (28 pmp) was highest in Cyprus and Denmark respectively. The kidney transplantation rate was nearly zero in some countries and highest in Spain (64 pmp). In 28 countries with five or more responding nephrologists, the median percentage of candidates for kidney replacement therapy who were offered CCM in 2018 varied between none (Slovakia and Slovenia) and 20% (Finland) whereas the median prevalence of CCM varied between none (Slovenia) and 15% (Hungary). Thus, the substantial differences across Europe in the frequency of kidney replacement therapy and CCM indicate the need for improvement in access to various treatment options for patients with kidney failure.


Asunto(s)
Fallo Renal Crónico , Trasplante de Riñón , Insuficiencia Renal , Tratamiento Conservador , Ácido Edético , Europa (Continente) , Alemania , Grecia , Humanos , Irlanda , Italia , Fallo Renal Crónico/epidemiología , Fallo Renal Crónico/terapia , Trasplante de Riñón/efectos adversos , Portugal , Sistema de Registros , Diálisis Renal/efectos adversos , España
9.
Clin Kidney J ; 13(4): 693-709, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32897277

RESUMEN

BACKGROUND: This article presents a summary of the 2017 Annual Report of the European Renal Association-European Dialysis and Transplant Association (ERA-EDTA) Registry and describes the epidemiology of renal replacement therapy (RRT) for end-stage renal disease (ESRD) in 37 countries. METHODS: The ERA-EDTA Registry received individual patient data on patients undergoing RRT for ESRD in 2017 from 32 national or regional renal registries and aggregated data from 21 registries. The incidence and prevalence of RRT, kidney transplantation activity and survival probabilities of these patients were calculated. RESULTS: In 2017, the ERA-EDTA Registry covered a general population of 694 million people. The incidence of RRT for ESRD was 127 per million population (pmp), ranging from 37 pmp in Ukraine to 252 pmp in Greece. A total of 62% of patients were men, 52% were ≥65 years of age and 23% had diabetes mellitus as the primary renal disease. The treatment modality at the onset of RRT was haemodialysis for 85% of patients. On 31 December 2017, the prevalence of RRT was 854 pmp, ranging from 210 pmp in Ukraine to 1965 pmp in Portugal. The transplant rate in 2017 was 33 pmp, ranging from 3 pmp in Ukraine to 103 pmp in the Spanish region of Catalonia. For patients commencing RRT during 2008-12, the unadjusted 5-year patient survival probability for all RRT modalities combined was 50.8%.

10.
BMC Med ; 18(1): 256, 2020 08 14.
Artículo en Inglés | MEDLINE | ID: mdl-32795303

RESUMEN

BACKGROUND: After its outbreak in China, the novel COronaVIrus Disease 19 is spreading across the globe. It is an emergency the world has never seen before. MAIN TEXT: The attention of health systems is mainly focused on COronaVIrus Disease 19 patients and on the risk that intensive care units might be overwhelmed by the serious pulmonary complications. Different countries are also attempting to establish infection prevention and control strategies which proved effective in China where the outbreak was initially reported. We reflect on important lessons to be learnt from different countries. The effects that infection prevention and control strategies, such as social distancing or isolation, can have on the care of millions of patients with non-communicable diseases, who may be indirectly affected, have not been taken into consideration so much. CONCLUSIONS: When dealing with COronaVIrus Disease 19, policy makers and healthcare personnel should consider the indirect effects on the treatment of non-communicable diseases.


Asunto(s)
Betacoronavirus , Enfermedades Cardiovasculares , Infecciones por Coronavirus/prevención & control , Hipertensión , Enfermedades no Transmisibles , Pandemias/prevención & control , Neumonía Viral/prevención & control , COVID-19 , China/epidemiología , Emigración e Inmigración , Recursos en Salud , Humanos , Medición de Riesgo , Factores de Riesgo , SARS-CoV-2
11.
Pan Afr Med J ; 35: 129, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32655743

RESUMEN

We re-examine the infrequent paradigm of a biweekly dialysis at the start of renal replacement therapy. The current method is to launch hemodialysis among patients using a 'full-dose' posology three times a week. As a matter of fact, recent data has suggested that frequent hemodialysis leads to high mortality at the onset of dialysis. The aim of our study is to show the factors affecting early mortality especially the hemodialysis frequency. We undertook an observational study in the hemodialysis unit of Sfax University Hospital (south Tunisia). We enrolled the incident patients during one year. Baseline demographic and clinical characteristics of patients were noted. The survival status of each patient is observed at 6 months after the onset of hemodialysis. We analyzed the factors associated with mortality, especially the hemodialysis frequency (twice or thrice weekly hemodialysis regimen). We enrolled 88 patients with mean age of 56 ± 18 years old. Thirty patients underwent twice weekly dialysis (Group 1) and 58 patients underwent thrice weekly dialysis (Group 2). The mortality at 6 months was similar in the 2 groups (the rate of death = 30% in group 1 vs 13.8% in group 2, p = 0.07). However, the mortality was lower in the group with preserved residual diuresis (35.3% vs 64.7% in the group without residual diuresis, p = 0.02). The mortality was higher in diabetes patients (64.7% vs 35.5%, p = 0.02). It was concluded that twice or threefold weekly treatment have some considerable similar outcomes on the patients survival (at 6 months).


Asunto(s)
Enfermedades Renales/terapia , Diálisis Renal/métodos , Adulto , Anciano , Diabetes Mellitus/epidemiología , Diabetes Mellitus/mortalidad , Unidades de Hemodiálisis en Hospital , Humanos , Enfermedades Renales/mortalidad , Persona de Mediana Edad , Diálisis Renal/efectos adversos , Factores de Tiempo , Túnez
12.
Hypertension ; 76(2): 545-553, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32639884

RESUMEN

Current literature suggests a higher risk of pregnancy-related complications in patients with renal fibromuscular dysplasia (FMD). The aim of our study was to assess the nature and prevalence of pregnancy-related complications in patients subsequently diagnosed with FMD. A call for participation was sent to centers contributing to the European/International FMD Registry. Patients with at least 1 pregnancy were included. Data on pregnancy were collected through medical files and FMD characteristics through the European/International FMD Registry. Data from 534 pregnancies were obtained in 237 patients. Despite the fact that, in 96% of cases, FMD was not diagnosed before pregnancy, 40% of women (n=93) experienced pregnancy-related complications, mostly gestational hypertension (25%) and preterm birth (20%), while preeclampsia was reported in only 7.5%. Only 1 patient experienced arterial dissection and another patient an aneurysm rupture. When compared with patients without pregnancy-related complications, patients with complicated pregnancies were younger at FMD diagnosis (43 versus 51 years old; P<0.001) and had a lower prevalence of cerebrovascular FMD (30% versus 52%; P=0.003) but underwent more often renal revascularization (63% versus 40%, P<0.001). In conclusion, the prevalence of pregnancy-related complications such as gestational hypertension and preterm birth was high in patients with FMD, probably related to the severity of renal FMD. However, the prevalence of preeclampsia and arterial complications was low/moderate. These findings emphasize the need to screen hypertensive women for FMD to ensure revascularization before pregnancy if indicated and appropriate follow-up during pregnancy, without discouraging patients with FMD from considering pregnancy.


Asunto(s)
Displasia Fibromuscular/epidemiología , Complicaciones del Embarazo/epidemiología , Nacimiento Prematuro/epidemiología , Adulto , Comorbilidad , Femenino , Displasia Fibromuscular/fisiopatología , Humanos , Persona de Mediana Edad , Embarazo , Complicaciones del Embarazo/fisiopatología , Nacimiento Prematuro/fisiopatología , Prevalencia , Sistema de Registros , Arteria Renal/fisiopatología , Adulto Joven
13.
Intern Emerg Med ; 15(4): 543-548, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-31900790

RESUMEN

According to the Global Burden of Disease Study 2017, between 1990 and 2017, Italy experienced a more attenuate reduction in cardiovascular deaths than Western Europe. When considering risk factors, our Country experienced a reduction in the prevalence of hypertension in the last few decades, especially in women. On the other hand, the prevalence of obesity, abdominal obesity and hypercholesterolemia in Italy is on the rise. Likewise, the control of total blood cholesterol is not revealing favorable time changes and sedentary lifestyle remains highly prevalent especially among women. A negative relationship between long-term exposure to the economic crisis and cardiovascular diseases was observed and the association between cardiovascular risk and socioeconomic status is now clearly evident. It is, therefore, necessary to specifically target the efforts towards the weakest sections of the population so that prevention policies can offer their maximum benefit. The study is part of a series of manuscripts promoted by SIMI with the collaboration of the National Internal Medicine Societies of some Mediterranean countries (Tunisia, Algeria, Egypt). The goal was to highlight the health needs related to the growth of metabolic diseases in the area. The observed changes bring the two coasts of the Mediterranean closer together. It is time to work together to build more effective strategies for identifying and reaching population subgroups that have still remained little sensitive to prevention and specially to lifestyles changes.


Asunto(s)
Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/prevención & control , Factores de Riesgo de Enfermedad Cardiaca , Síndrome Metabólico/epidemiología , Humanos , Región Mediterránea/epidemiología , Prevalencia , Factores Socioeconómicos
14.
Pan Afr Med J ; 29: 64, 2018.
Artículo en Francés | MEDLINE | ID: mdl-29875945

RESUMEN

INTRODUCTION: Terminal chronic renal failure is a truly global public health problem. In 2011, the cost of management of patients on dialysis has surpassed 90 million dinars (37.000 euro) in Tunisia, nearly 5% of the overall health spending. A better knowledge of the epidemiological profile of terminal chronic renal failure contributes to the implementation and evaluation of health strategies aimed to improve prevention and disease management. This study aimed to describe the epidemiological profile of incident cases in the Sfax Governorate over the period of 10 years. METHODS: We conducted a descriptive retrospective study over the period from January 2003 to December 2012. The incident cases of terminal chronic renal failure in the Sfax Governorate were included in the study. RESULTS: The diagnosis of terminal chronic renal failure was made in 1708 cases: 957 men and 751 women (sex-ratio = 1.27). The average age was 58.4 years [10-100 years]. The study of the evolution of the average age during the study period showed a tendency to increase with positive correlation coefficient (0.749) and p = 0.006. The main causal nephropathy was diabetic nephropathy (21.5%), with a significant increase in its frequency from one year to the other (positive correlation coefficient (0.770) with p = 0.009). Hemodialysis was the dialysis technique of choice, performed in 96% of patients. CONCLUSION: A national registry is indispensable in order to better understand the epidemiological profile of terminal chronic renal failure in Tunisia and to improve its management.


Asunto(s)
Nefropatías Diabéticas/epidemiología , Fallo Renal Crónico/epidemiología , Diálisis Renal/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Nefropatías Diabéticas/terapia , Femenino , Humanos , Fallo Renal Crónico/etiología , Fallo Renal Crónico/terapia , Masculino , Persona de Mediana Edad , Sistema de Registros , Estudios Retrospectivos , Enfermo Terminal , Túnez/epidemiología , Adulto Joven
15.
Clin Kidney J ; 11(1): 108-122, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29423210

RESUMEN

BACKGROUND: This article summarizes the European Renal Association - European Dialysis and Transplant Association (ERA-EDTA) Registry's 2015 Annual Report. It describes the epidemiology of renal replacement therapy (RRT) for end-stage renal disease (ESRD) in 2015 within 36 countries. METHODS: In 2016 and 2017, the ERA-EDTA Registry received data on patients who were undergoing RRT for ESRD in 2015, from 52 national or regional renal registries. Thirty-two registries provided individual patient-level data and 20 provided aggregated-level data. The incidence, prevalence and survival probabilities of these patients were determined. RESULTS: In 2015, 81 373 individuals commenced RRT for ESRD, equating to an overall unadjusted incidence rate of 119 per million population (pmp). The incidence ranged by 10-fold, from 24 pmp in Ukraine to 232 pmp in the Czech Republic. Of the patients commencing RRT, almost two-thirds were men, over half were aged ≥65 years and a quarter had diabetes mellitus as their primary renal diagnosis. Treatment modality at the start of RRT was haemodialysis for 85% of the patients, peritoneal dialysis for 11% and a kidney transplant for 4%. By Day 91 of commencing RRT, 82% of patients were receiving haemodialysis, 13% peritoneal dialysis and 5% had a kidney transplant. On 31 December 2015, 546 783 individuals were receiving RRT for ESRD, corresponding to an unadjusted prevalence of 801 pmp. This ranged throughout Europe by more than 10-fold, from 178 pmp in Ukraine to 1824 pmp in Portugal. In 2015, 21 056 kidney transplantations were performed, equating to an overall unadjusted transplant rate of 31 pmp. This varied from 2 pmp in Ukraine to 94 pmp in the Spanish region of Cantabria. For patients commencing RRT during 2006-10, the 5-year unadjusted patient survival probabilities on all RRT modalities combined was 50.0% (95% confidence interval 49.9-50.1).

16.
BMC Nephrol ; 18(1): 303, 2017 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-28969594

RESUMEN

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, leading to urolithiasis, nephrocalcinosis, and consequent renal failure if treatment is not initiated promptly. Mutations in the AGXT gene which encodes the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase are responsible of PH1. In the present work, we aimed to analyze AGXT gene and in silico investigations performed in four patients with PH1 among two non consanguineous families. METHODS: Exhaustive gene sequencing was performed after PCR amplification of coding exons and introns boundaries. Bioinformatic tools were used to predict the impact of AGXT variants on gene expression as well as on the protein structure and function. RESULTS: Direct sequencing of all exons of AGXT gene revealed the emergence of multiple mutations in compound heterozygous state in the two studied families. Two patients were compound heterozygous for the c.731 T > C, c.32C > T, c.1020A > G and c.33_34insC and presented clinically with recurrent urinary tract infection, multiple urolithiasis and nephrocalcinosis under the age of 1 year and a persistent hyperoxaluria at the age of diagnosis. The two other patients presenting a less severe phenotypes were heterozygous for c.731 T > C and homozygous for the c.32C > T and c.1020A > G or compound heterozygous for c.26C > A and c.65A > G variants. CONCLUSION: In Summary, we provided relevance regarding the compound heterozygous mutations in non consanguineous PH1 families with variable severity.


Asunto(s)
Simulación por Computador , Tamización de Portadores Genéticos/métodos , Hiperoxaluria Primaria/diagnóstico , Hiperoxaluria Primaria/genética , Transaminasas/química , Transaminasas/genética , Adulto , Secuencia de Aminoácidos , Niño , Preescolar , Femenino , Humanos , Masculino , Mutación/genética , Linaje , Estructura Secundaria de Proteína , Análisis de Secuencia de ADN/métodos
17.
Skinmed ; 15(4): 303-305, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28859746

RESUMEN

A 27-year-old man with terminal renal failure requiring peritoneal dialysis for the past 2 years was referred to the dermatologist for evaluation of red violaceous macular skin lesions consistent with livedo reticularis. These lesions had appeared suddenly on his legs (Figure 1). He had first experienced recurrent nephrolithiasis at the age of 14. Results from urine analysis and abdominal ultrasound revealed chronic kidney failure. Because the patient had a sister with similar findings, primary hyperoxaluria (PH) was suspected and genetic testing was performed in all members of his family. The results confirmed PH type 1 (PH1) in both our patient and his sister, who had died 8 years after the establishment of the diagnosis. A biopsy of the livedo reticularis lesions revealed deposits of a yellowish brown crystalline material within the lumen and the media of medium vessels in the hypodermis associated with a histiocytic giant cell reaction (Figure 2a). There was no evidence of extravascular calcium deposition in the sections examined. The deposits were intensely birefringent under polarized light, and classic speculated crystals of oxalate salts were observed (Figure 2b). No focal epidermal or superficial dermal necrosis was seen. On the basis of the histopathologic findings, the diagnosis of oxalate crystal-induced vascular disease was established. The patient subsequently developed complications including pancreatitis and peritonitis. He underwent hemodialysis until a combined liver-kidney transplant could be performed.


Asunto(s)
Hiperoxaluria Primaria/complicaciones , Dermatosis de la Pierna/etiología , Livedo Reticularis/etiología , Adulto , Humanos , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/terapia , Dermatosis de la Pierna/patología , Livedo Reticularis/patología , Masculino
18.
Clin Kidney J ; 10(2): 154-169, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28584624

RESUMEN

Background: This article summarizes the European Renal Association - European Dialysis and Transplant Association Registry's 2014 annual report. It describes the epidemiology of renal replacement therapy (RRT) for end-stage renal disease (ESRD) in 2014 within 35 countries. Methods: In 2016, the ERA-EDTA Registry received data on patients who in 2014 where undergoing RRT for ESRD, from 51 national or regional renal registries. Thirty-two registries provided individual patient level data and 19 provided aggregated patient level data. The incidence, prevalence and survival probabilities of these patients were determined. Results: In 2014, 70 953 individuals commenced RRT for ESRD, equating to an overall unadjusted incidence rate of 133 per million population (pmp). The incidence ranged by 10-fold; from 23 pmp in the Ukraine to 237 pmp in Portugal. Of the patients commencing RRT, almost two-thirds were men, over half were aged ≥65 years and a quarter had diabetes mellitus as their primary renal diagnosis. By day 91 of commencing RRT, 81% of patients were receiving haemodialysis. On 31 December 2014, 490 743 individuals were receiving RRT for ESRD, equating to an unadjusted prevalence of 924 pmp. This ranged throughout Europe by more than 10-fold, from 157 pmp in the Ukraine to 1794 pmp in Portugal. In 2014, 19 406 kidney transplantations were performed, equating to an overall unadjusted transplant rate of 36 pmp. Again this varied considerably throughout Europe. For patients commencing RRT during 2005-09, the 5-year-adjusted patient survival probabilities on all RRT modalities was 63.3% (95% confidence interval 63.0-63.6). The expected remaining lifetime of a 20- to 24-year-old patient with ESRD receiving dialysis or living with a kidney transplant was 21.9 and 44.0 years, respectively. This was substantially lower than the 61.8 years of expected remaining lifetime of a 20-year-old patient without ESRD.

19.
J Clin Hypertens (Greenwich) ; 19(9): 899-903, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28560727

RESUMEN

The Community Health Assessment Program-Philippines (CHAP-P) is an international collaboration of investigators whose aim is to adapt a previously proven Canadian community-based cardiovascular awareness and prevention intervention to the Philippines and other low-middle-income countries. Choosing a method of blood pressure measurement for the research program presents a challenge. There is increasing consensus globally that blood pressure measurement with automated devices is preferred. Recommendations from low-middle-income countries, including the Philippines, are less supportive of automated blood pressure devices. The value placed on factors including device accuracy, durability, cost, energy source, and complexity differ with local context. Our goal was to support the progress of local policy concerning blood pressure measurement while testing a comprehensive approach to community-based screening for cardiovascular risk. The authors describe the challenges in making a choice of blood pressure device and the approach to determine optimal method of measurement for our research program.


Asunto(s)
Determinación de la Presión Sanguínea/instrumentación , Presión Sanguínea/fisiología , Hipertensión/diagnóstico , Salud Pública/tendencias , Población Rural/estadística & datos numéricos , Concienciación , Determinación de la Presión Sanguínea/métodos , Enfermedades Cardiovasculares/prevención & control , Conocimientos, Actitudes y Práctica en Salud , Directrices para la Planificación en Salud , Promoción de la Salud/métodos , Recursos en Salud/estadística & datos numéricos , Humanos , Hipertensión/prevención & control , Tamizaje Masivo/métodos , Filipinas/epidemiología , Evaluación de Programas y Proyectos de Salud
20.
Nephrol Dial Transplant ; 32(4): 620-640, 2017 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-28340239

RESUMEN

In patients with end-stage renal disease (ESRD) treated with haemodialysis or peritoneal dialysis, hypertension is common and often poorly controlled. Blood pressure (BP) recordings obtained before or after haemodialysis display a J- or U-shaped association with cardiovascular events and survival, but this most likely reflects the low accuracy of these measurements and the peculiar haemodynamic setting related to dialysis treatment. Elevated BP detected by home or ambulatory BP monitoring is clearly associated with shorter survival. Sodium and volume excess is the prominent mechanism of hypertension in dialysis patients, but other pathways, such as arterial stiffness, activation of the renin-angiotensin-aldosterone and sympathetic nervous systems, endothelial dysfunction, sleep apnoea and the use of erythropoietin-stimulating agents may also be involved. Non-pharmacologic interventions targeting sodium and volume excess are fundamental for hypertension control in this population. If BP remains elevated after appropriate treatment of sodium and volume excess, the use of antihypertensive agents is necessary. Drug treatment in the dialysis population should take into consideration the patient's comorbidities and specific characteristics of each agent, such as dialysability. This document is an overview of the diagnosis, epidemiology, pathogenesis and treatment of hypertension in patients on dialysis, aiming to offer the renal physician practical recommendations based on current knowledge and expert opinion and to highlight areas for future research.


Asunto(s)
Hipertensión/tratamiento farmacológico , Hipertensión/etiología , Fallo Renal Crónico/terapia , Guías de Práctica Clínica como Asunto/normas , Diálisis Renal/efectos adversos , Antihipertensivos/uso terapéutico , Consenso , Humanos , Hipertensión/epidemiología , Sociedades Médicas
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...