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1.
Kidney Int ; 95(4): 914-928, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30773290

RESUMO

Approximately 500 monogenic causes of chronic kidney disease (CKD) have been identified, mainly in pediatric populations. The frequency of monogenic causes among adults with CKD has been less extensively studied. To determine the likelihood of detecting monogenic causes of CKD in adults presenting to nephrology services in Ireland, we conducted whole exome sequencing (WES) in a multi-centre cohort of 114 families including 138 affected individuals with CKD. Affected adults were recruited from 78 families with a positive family history, 16 families with extra-renal features, and 20 families with neither a family history nor extra-renal features. We detected a pathogenic mutation in a known CKD gene in 42 of 114 families (37%). A monogenic cause was identified in 36% of affected families with a positive family history of CKD, 69% of those with extra-renal features, and only 15% of those without a family history or extra-renal features. There was no difference in the rate of genetic diagnosis in individuals with childhood versus adult onset CKD. Among the 42 families in whom a monogenic cause was identified, WES confirmed the clinical diagnosis in 17 (40%), corrected the clinical diagnosis in 9 (22%), and established a diagnosis for the first time in 16 families referred with CKD of unknown etiology (38%). In this multi-centre study of adults with CKD, a molecular genetic diagnosis was established in over one-third of families. In the evolving era of precision medicine, WES may be an important tool to identify the cause of CKD in adults.


Assuntos
Sequenciamento do Exoma , Predisposição Genética para Doença , Testes Genéticos/métodos , Insuficiência Renal Crônica/genética , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Exoma/genética , Feminino , Humanos , Irlanda , Rim , Masculino , Anamnese , Pessoa de Meia-Idade , Mutação , Linhagem , Medicina de Precisão , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/terapia , Adulto Jovem
2.
BMC Nephrol ; 20(1): 68, 2019 02 26.
Artigo em Inglês | MEDLINE | ID: mdl-30808313

RESUMO

BACKGROUND: Infections are the second leading cause of death and hospitalisation among haemodialysis (HD) patients. Rates of access-related bloodstream infections (AR-BSI) are influenced by patient characteristics and local protocols. We explored factors associated with AR-BSI in a contemporary cohort of HD patients at a tertiary nephrology centre. METHODS: A retrospective cohort of 235 chronic HD patients was identified from a regional dialysis programme between Jan 2015 and Dec 2016. Data on demographics, primary renal disease, comorbid conditions and dialysis access type were obtained from the Kidney Disease Clinical Patient Management System (KDCPMS). Data on blood cultures were captured from the microbiology laboratory. Poisson regression with robust variance estimates was used to compare infection rates and relative risk of AR-BSI according to the site and type of vascular access. RESULTS: The mean age was 65 (± 15) years, 77% were men, and the median follow up was 19 months (IQR: 10-24 months), accumulating 2030 catheter-months and 1831 fistula-months. Overall rates of AR-BSI were significantly higher for central venous catheter (CVC) compared to arteriovenous fistula (AVF), (2.22, 95% (CI): 1.62-2.97) versus 0.11 (0.01-0.39) per 100 patient-months respectively), with a rate ratio of 20.29 (4.92-83.66), p < 0.0001. This pattern persisted across age, gender and diabetes subgroups. Within the CVC subgroup, presence of a femoral CVC access was associated with significantly higher rates of AR-BSI (adjusted RR 4.93, 95% CI: 2.69-9.01). Older age (75+ versus < 75 years) was not associated with significant differences in rates of AR-BSI in the unadjusted or the adjusted analysis. Coagulase negative Staphylococcus (61%) and Staphylococcus aureus (23%) were the predominant culprits. AR-BSIs resulted in access loss and hospitalisation in 57 and 72% of events respectively, and two patients died with concurrent AR-BSI. CONCLUSIONS: Rates of AR-BSI are substantially higher in CVC than AVF in contemporary HD despite advances in catheter design and anti-infective protocols. This pattern was consistent in all subgroups. The policy of AVF preference over CVC should continue to minimise patient morbidity while at the same time improving anti-infective strategies through better care protocols and infection surveillance.


Assuntos
Anastomose Arteriovenosa/microbiologia , Bacteriemia , Infecções Relacionadas a Cateter , Cateteres Venosos Centrais/microbiologia , Diálise Renal , Infecções Estafilocócicas , Idoso , Bacteriemia/diagnóstico , Bacteriemia/epidemiologia , Bacteriemia/etiologia , Infecções Relacionadas a Cateter/sangue , Infecções Relacionadas a Cateter/epidemiologia , Infecções Relacionadas a Cateter/etiologia , Cateteres Venosos Centrais/efeitos adversos , Fatores Epidemiológicos , Feminino , Humanos , Irlanda/epidemiologia , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/terapia , Masculino , Avaliação de Resultados em Cuidados de Saúde , Avaliação de Processos e Resultados em Cuidados de Saúde , Diálise Renal/efeitos adversos , Diálise Renal/métodos , Estudos Retrospectivos , Fatores de Risco , Infecções Estafilocócicas/diagnóstico , Infecções Estafilocócicas/epidemiologia , Infecções Estafilocócicas/etiologia
3.
Ren Fail ; 39(1): 290-293, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27917694

RESUMO

INTRODUCTION: Alport syndrome is an inherited renal disease characterized by hematuria, renal failure, hearing loss and a lamellated glomerular basement membrane. Patients with Alport syndrome who undergo renal transplantation have been shown to have patient and graft survival rates similar to or better than those of patients with other renal diseases. METHODS: In this national case series, based in Beaumont Hospital Dublin, we studied the cohort of patients who underwent renal transplantation over the past 33 years, recorded prospectively in the Irish Renal Transplant Registry, and categorized them according to the presence or absence of Alport syndrome. The main outcomes assessed were patient and renal allograft survival. RESULTS: Fifty-one patients diagnosed with Alport syndrome in Beaumont Hospital received 62 transplants between 1982 and 2014. The comparison group of non-Alport patients comprised 3430 patients for 3865 transplants. Twenty-year Alport patient survival rate was 70.2%, compared to 44.8% for patients with other renal diseases (p = .01). Factors associated with patient survival included younger age at transplantation as well as differences in recipient sex, donor age, cold ischemia time, and episodes of acute rejection. Twenty-year graft survival was 46.8% for patients with Alport syndrome compared to 30.2% for those with non-Alport disease (p = .11). CONCLUSIONS: Adjusting for baseline differences between the groups, patients with end-stage kidney disease (ESKD) due to Alport syndrome have similar patient and graft survival to those with other causes of ESKD. This indicates that early diagnosis and management can lead to favorable outcomes for this patient cohort.


Assuntos
Rejeição de Enxerto/epidemiologia , Falência Renal Crônica/cirurgia , Transplante de Rim , Nefrite Hereditária/complicações , Adulto , Feminino , Sobrevivência de Enxerto , Humanos , Irlanda , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Nefrite Hereditária/mortalidade , Modelos de Riscos Proporcionais , Sistema de Registros , Taxa de Sobrevida , Transplante Homólogo , Adulto Jovem
4.
BMC Nephrol ; 17: 95, 2016 07 26.
Artigo em Inglês | MEDLINE | ID: mdl-27456350

RESUMO

BACKGROUND: The extent to which smoking contributes to adverse outcomes among men and women of all ages undergoing dialysis is uncertain. The objective of this study was to determine the differential impact of smoking on risks of mortality and kidney transplantation by age and by sex at dialysis initiation. METHODS: We conducted a population-based cohort of incident U.S dialysis patients (n = 1, 220, 000) from 1995-2010. Age- and sex-specific mortality and kidney transplantation rates were determined for patients with and without a history of cardiovascular disease. Multivariable Cox regression evaluated relative hazard ratios (HR) for death and kidney transplantation at 2 years stratified by atherosclerotic condition, smoking status and age. Analyses were adjusted for demographic characteristics, non-cardiovascular conditions, laboratory variables, socioeconomic and lifestyle factors. RESULTS: The average age was 62.8 (±15) years old, 54 % were male, and the majority was white. During 2-year follow-up, 40.5 % died and 5.7 % were transplanted. Age- and sex-specific mortality rates were significantly higher while transplantation rates were significantly lower for smokers with atherosclerotic conditions than non-smokers (P < 0.01). The adjusted mortality hazards were significantly higher for smokers with pre-existing coronary disease (HR 1.15, 95 % CI (1.11-1.18), stroke (HR 1.21, 1.16-1.27) and peripheral vascular disease (HR = 1.21, 1.17-1.25) compared to non-smokers without these conditions (HR 1.00, referent group). The magnitude of effect was greatest for younger patients than older patients. Contrastingly, the adjusted risks of kidney transplantation were significantly lower for smokers with coronary disease: (HR 0.60, 0.52-0.69), stroke; (HR 0.47, 0.37-0.60), and peripheral arterial disease (HR 0.55, 0.46-0.66) respectively compared to non-smokers without these conditions. CONCLUSIONS: We provide compelling evidence that smoking is associated with adverse clinical outcomes and reduced lifespans among dialysis patients of all ages and sexes. The adverse impact is greatest for younger men and women.


Assuntos
Aterosclerose/mortalidade , Falência Renal Crônica/mortalidade , Falência Renal Crônica/terapia , Transplante de Rim/estatística & dados numéricos , Fumar/mortalidade , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Comorbidade , Doença das Coronárias/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença Arterial Periférica/mortalidade , Diálise Renal , Fatores Sexuais , Acidente Vascular Cerebral/mortalidade , Estados Unidos/epidemiologia , Adulto Jovem
5.
BMC Nephrol ; 15: 185, 2014 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-25425510

RESUMO

BACKGROUND: Chronic Kidney Disease (CKD) is a major non-communicable chronic disease that is associated with adverse clinical and economic outcomes. Passive surveillance systems are likely to improve efforts for prevention of chronic kidney disease (CKD) and inform national service planning. This study was conducted to determine the overall prevalence of CKD in the Irish health system, assess period trends and explore patterns of variation as part of a novel surveillance initiative. METHODS: We identified 207, 336 adult patients, age 18 and over, with serum creatinine measurements recorded from a provincial database between 2005-2011 in the Northwest of Ireland. Estimated glomerular filtration rates (eGFR) were determined using the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation from standardized creatinine measurements and the presence of CKD was defined as eGFR<60 ml/min per 1.73 m2. Age and sex-specific prevalence estimates were determined for each group while generalized estimating equations (GEE) and multivariable logistic regression were used to explore associations using adjusted odds ratios (AOR) and 95% confidence intervals (95% CI). RESULTS: The prevalence of CKD in the health system was 11.8% (95% CI 11.8-12.1); 10.9% in men (10.7-11.1) and 12.6% in women (12.4-12.8). This corresponded to a detection rate of 4.5% (5.1% in women and 3.9% in men). The prevalence of CKD was significantly higher in women than in men (12.6% versus 10.9%, P<0.001), older age groups, and among patients with a history of Acute Kidney Injury (AKI) than without (45.2% versus 10.7%, P<0.0001). Multivariable analysis identified advancing age, female gender, location of medical supervision, county of residence, and AKI as significant determinants of prevalence. CONCLUSION: The prevalence of CKD in the Irish health system is 11.8% corresponding to a detection rate of 4.5% in the general population. Demographic, geographic factors and acute kidney injury episodes are important determinants of disease burden. Passive surveillance of CKD is both feasible and desirable within the Irish health system, and offers huge opportunities for targeted prevention programmes and improved clinical outcomes.


Assuntos
Vigilância da População , Insuficiência Renal Crônica/epidemiologia , Adolescente , Adulto , Creatina/sangue , Demografia , Feminino , Humanos , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Morbidade/tendências , Prevalência , Estudos Retrospectivos , Adulto Jovem
7.
Am J Nephrol ; 38(1): 66-74, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23838609

RESUMO

BACKGROUND/AIMS: Coronary artery disease (CAD) is a major risk factor for death on dialysis. The objective of this study was to compare prevalent trends and patterns of survival in successive national cohorts. METHODS: National data on 823,753 incident dialysis patients, aged 18 and over, were analyzed from the US Renal Data System from 1995 to 2004. The prevalence of CAD was compared across calendar years by sex and race categorized as; White, Black, Asian and Native American/Alaskan Native (Native Am). Two-year mortality rates were determined for annual cohorts and multivariable Cox regression compared hazard ratios (HR) and 95% confidence intervals. RESULTS: From 1995 to 2004, the annual prevalence of CAD increased significantly in men from 25.2 to 30.1% and in women from 22.1 to 25.3%, p < 0.001. For men, the rise in prevalence was largely due to increases among Black men and older White men. For women, the pattern was similar. During this period, death rates decreased significantly from 379 to 348 and from 396 to 357 per 1,000 person-years in men and women respectively. Multivariate analysis identified significant reductions in mortality with advancing calendar year for White (HR 0.98 (0.98-0.99)), Asian (HR 0.93 (0.91-0.96)), and Native Am men (HR 0.95 (0.90-0.99)), and for White (HR 0.99 (0.98-0.99)) and Native Am women (HR 0.93 (0.89-0.98)). No significant trends were observed for Black patients. CONCLUSIONS: Despite a rising burden of CAD among incident US dialysis patients, mortality rates have fallen for most groups. Substantial racial disparities remain.


Assuntos
Doença da Artéria Coronariana/mortalidade , Falência Renal Crônica/mortalidade , Mortalidade/tendências , Sistema de Registros , Diálise Renal/mortalidade , Idoso , Comorbidade , Doença da Artéria Coronariana/epidemiologia , Doença da Artéria Coronariana/terapia , Feminino , Humanos , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Prevalência , Estados Unidos/epidemiologia
9.
J Nephrol ; 35(6): 1655-1665, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35099770

RESUMO

BACKGROUND AND AIMS: Genetic testing presents a unique opportunity for diagnosis and management of genetic kidney diseases (GKD). Here, we describe the clinical utility and valuable impact of a specialized GKD clinic, which uses a variety of genomic sequencing strategies. METHODS: In this prospective cohort study, we undertook genetic testing in adults with suspected GKD according to prespecified criteria. Over 7 years, patients were referred from tertiary centres across Ireland to an academic medical centre as part of the Irish Kidney Gene Project. RESULTS: Among 677 patients, the mean age was of 37.2 ± 13 years, and 73.9% of the patients had family history of chronic kidney disease (CKD). We achieved a molecular diagnostic rate of 50.9%. Four genes accounted for more than 70% of identified pathogenic variants: PKD1 and PKD2 (n = 186, 53.4%), MUC1 (8.9%), and COL4A5 (8.3%). In 162 patients with a genetic diagnosis, excluding PKD1/PKD2, the a priori diagnosis was confirmed in 58% and in 13% the diagnosis was reclassified. A genetic diagnosis was established in 22 (29.7%) patients with CKD of uncertain aetiology. Based on genetic testing, a diagnostic kidney biopsy was unnecessary in 13 (8%) patients. Presence of family history of CKD and the underlying a priori diagnosis were independent predictors (P < 0.001) of a positive genetic diagnosis. CONCLUSIONS: A dedicated GKD clinic is a valuable resource, and its implementation of various genomic strategies has resulted in a direct, demonstrable clinical and therapeutic benefits to affected patients.


Assuntos
Rim Policístico Autossômico Dominante , Insuficiência Renal Crônica , Adulto , Testes Genéticos/métodos , Humanos , Rim , Pessoa de Meia-Idade , Mutação , Rim Policístico Autossômico Dominante/diagnóstico , Estudos Prospectivos , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/genética , Canais de Cátion TRPP/genética , Adulto Jovem
10.
HRB Open Res ; 5: 80, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-37251362

RESUMO

Background: Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a rare multisystem autoimmune disease. There is a need for interoperable national registries to enable reporting of real-world long-term outcomes and their predictors in AAV. Methods: The Irish National Rare Kidney Disease (RKD) registry was founded in 2012. To date, 842 patients with various forms of vasculitis have been recruited across eight nephrology, rheumatology and immunology centres. We focus here on patient- and disease- characteristics, treatment and outcomes of the 397 prospectively recruited patients with AAV. Results: Median age was 64 years (IQR 55-73), 57.9% were male, 58.9% had microscopic polyangiitis and 85.9% had renal impairment. Cumulative one- and five-year patient survival was 94% and 77% respectively. Median follow-up was 33.5 months (IQR 10.7-52.7). After controlling for age, baseline renal dysfunction (p = 0.04) and the burden of adverse events (p <0.001) were independent predictors of death overall. End-stage-kidney-disease (ESKD) occurred in 73 (18.4%) patients; one- and five-year renal survival was 85% and 79% respectively. Baseline severity of renal insufficiency (p = 0.02), urine soluble CD163 (usCD163) (p = 0.002) and "sclerotic" Berden histological class (p = 0.001) were key determinants of ESKD risk. Conclusions: Long-term outcomes of Irish AAV patients are comparable to other reported series. Our results emphasise the need for personalisation of immunosuppression, to limit treatment toxicity, particularly in those with advanced age and renal insufficiency. Baseline usCD163 is a potential biomarker for ESKD prediction and should be validated in a large independent cohort.

11.
Eur J Hum Genet ; 29(5): 827-838, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33454723

RESUMO

Polycystic kidney diseases (PKDs) comprise the most common Mendelian forms of renal disease. It is characterised by the development of fluid-filled renal cysts, causing progressive loss of kidney function, culminating in the need for renal replacement therapy or kidney transplant. Ireland represents a valuable region for the genetic study of PKD, as family sizes are traditionally large and the population relatively homogenous. Studying a cohort of 169 patients, we describe the genetic landscape of PKD in Ireland for the first time, compare the clinical features of patients with and without a molecular diagnosis and correlate disease severity with autosomal dominant pathogenic variant type. Using a combination of molecular genetic tools, including targeted next-generation sequencing, we report diagnostic rates of 71-83% in Irish PKD patients, depending on which variant classification guidelines are used (ACMG or Mayo clinic respectively). We have catalogued a spectrum of Irish autosomal dominant PKD pathogenic variants including 36 novel variants. We illustrate how apparently unrelated individuals carrying the same autosomal dominant pathogenic variant are highly likely to have inherited that variant from a common ancestor. We highlight issues surrounding the implementation of the ACMG guidelines for variant pathogenicity interpretation in PKD, which have important implications for clinical genetics.


Assuntos
Mutação , Doenças Renais Policísticas/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Efeito Fundador , Loci Gênicos , Humanos , Irlanda , Masculino , Pessoa de Meia-Idade , Fenótipo , Doenças Renais Policísticas/patologia
12.
Kidney Int Rep ; 5(11): 1945-1955, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33163715

RESUMO

INTRODUCTION: The standard low-phosphorus diet restricts pulses, nuts, and whole grains and other high phosphorus foods to control hyperphosphatemia. We conducted a randomized controlled trial to evaluate the effectiveness, safety, and tolerability of the modified diet, which introduced some pulses and nuts, increased the use of whole grains, increased focus on the avoidance of phosphate additives, and introduced the prescription of low-biological-value protein such as bread. METHODS: We conducted a multicenter, pragmatic, parallel-arm, open-label, randomized controlled trial of modified versus standard diet in 74 adults on hemodialysis with hyperphosphatemia over 1 month. Biochemistry was assessed using monthly laboratory tests. Dietary intake was assessed using a 2-day record of weighed intake of food, and tolerability was assessed using a patient questionnaire. RESULTS: There was no significant difference in the change in serum phosphate between the standard and modified diets. Although total dietary phosphorus intake was similar, phytate-bound phosphorus, found in pulses, nuts, and whole grains, was significantly higher in the modified diet (P < 0.001). Dietary fiber intake was also significantly higher (P < 0.003), as was the percentage of patients reporting an increase in bowel movements while following the modified diet (P = 0.008). There was no significant difference in the change in serum potassium or in reported protein intake between the 2 diets. Both diets were similarly well tolerated. CONCLUSION: The modified low phosphorus diet was well tolerated and was associated with similar phosphate and potassium control but with a wider food choice and greater fiber intake than the standard diet.

14.
Clin Kidney J ; 11(1): 99-107, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29423209

RESUMO

BACKGROUND: Although anaemia is a common complication of advanced chronic kidney disease (CKD), knowledge of quality of care and management practices in specialist clinics varies. We examined anaemia practices at specialist nephrology clinics within the Irish health system and evaluated the opinions of practicing nephrologists. METHODS: A multicentre cross-sectional study was conducted at specialist nephrology clinics across six geographic regions in Ireland. Clinical characteristics and treatment practices were evaluated in a sample of 530 patients with CKD. An accompanying national survey questionnaire captured opinions and treatment strategies of nephrologists on anaemia management. RESULTS: The prevalence of anaemia [defined as haemoglobin (Hb) <12.0 g/dL] was 37.8%, which increased significantly with advancing CKD (from 21% to 63%; P < 0.01) and varied across clinical sites (from 36% to 62%; P < 0.026). Iron deficiency (ID) was present in 46% of all patients tested and 86% of them were not on treatment. More than 45% of anaemic patients were not tested for ID. Respondents differed in their selection of clinical guidelines, threshold targets for erythropoiesis-stimulating agent (ESA) and intravenous iron therapy and anaemia management algorithms were absent in 47% of the clinics. The unexpectedly low rates of ESA use (4.7%) and iron therapy (10.2%) in clinical practice were in contrast to survey responses where 63% of nephrologists indicated ESA therapy initiation when Hb was <10.0 g/dL and 46% indicated commencement of iron therapy for ferritin <150 ng/mL. CONCLUSION: This study highlights substantial variability in the management of anaemia and ID at specialist nephrology clinics with low testing rates for ID, high rates of anaemia and ID and underutilization of effective treatments. Variability in the adoption and implementation of different clinical guidelines was evident.

15.
Hemodial Int ; 20(4): 618-630, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27198825

RESUMO

Introduction Experience with the use of patient-reported outcome measures such as EQ-5D and the symptom module of the Palliative care Outcome Scale-Renal Version (POS-S Renal) as mortality prediction tools in hemodialysis is limited. Methods A prospective survival study of people receiving hemodialysis (N = 362). The EQ-5D and the POS-S Renal were used to assess symptom burden and self-rated health (with a self-rated component). Participants were followed from instrument completion to death or study end. Competing risks survival analysis was used to evaluate associations with time to death, with renal transplant as a competing risk. Findings 32% (N = 116) of participants died over a median (25th-75th centile) of 2.6 (1.41-3.38) years. Factors most notably associated with mortality adjusted hazard ratio (95%CI) included: lower EQ VAS score 2.7 (1.4, 5.2) P = 0.004 (lowest tertile), higher POS-S Renal score 2.4 (1.3, 4.3) P = 0.004 (highest tertile), and lower EQ-5D score 2.6 (1.3, 5.3) P = 0.01 (lowest tertile) as well as the presence of: "problems with mobility?" 2 (1.1, 3.3) P = 0.01, or "problems with usual activities?" 2.1 (1.4, 3.3), P < 0.001. After age adjustment area under the receiver operating curves (AUC) (95%CI) for mortality were: 0.71 (0.62, 0.79) for EQ VAS score, 0.71 (0.63, 0.80) for POS-S Renal-S Renal score, and 0.76 (0.68, 0.84) for EQ-5D score. AUC 95%CI was highest for our fourth model at 0.79 (0.72, 0.86) comprised of individual elements from both instruments and established risk factors. Discussion EQ VAS scores and predictive models based on combinations of elements from the POS-S Renal and EQ-5D instruments may aid in mortality discrimination and possibly in the delivery of supportive care services.


Assuntos
Diálise Renal/métodos , Feminino , Nível de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Qualidade de Vida , Diálise Renal/mortalidade , Inquéritos e Questionários , Análise de Sobrevida
16.
PLoS One ; 10(3): e0119958, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25768440

RESUMO

INTRODUCTION: With increasing numbers of patients diagnosed with ESRD, arteriovenous fistula (AVF) maturation has become a major factor in improving both dialysis related outcomes and quality of life of those patients. Compared to other types of access it has been established that a functional AVF access is the least likely to be associated with thrombosis, infection, hospital admissions, secondary interventions to maintain patency and death. AIM: Study of demographic factors implicated in the functional maturation of arteriovenous fistulas. Also, to explore any possible association between preoperative haematological investigations and functional maturation. METHODS: We performed a retrospective chart review of all patients with ESRD who were referred to the vascular service in the University Hospital of Limerick for creation of vascular access for HD. We included patients with primary AVFs; and excluded those who underwent secondary procedures. RESULTS: Overall AVF functional maturation rate in our study was 53.7% (52/97). Female gender showed significant association with nonmaturation (P = 0.004) and was the only predictor for non-maturation in a logistic regression model (P = 0.011). Patients who had history of renal transplant (P = 0.036), had relatively lower haemoglobin levels (P = 0.01) and were on calcium channel blockers (P = 0.001) showed better functional maturation rates. CONCLUSION: Female gender was found to be associated with functional non-maturation, while a history kidney transplant, calcium channel-blocker agents and low haemoglobin levels were all associated with successful functional maturation. In view of the conflicting evidence in the literature, large prospective multi-centre registry-based studies with well-defined outcomes are needed.


Assuntos
Artérias , Falência Renal Crônica/terapia , Diálise Renal/métodos , Veias , Idoso , Biomarcadores/sangue , Comorbidade , Feminino , Testes Hematológicos , Humanos , Falência Renal Crônica/sangue , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/epidemiologia , Masculino , Prognóstico , Estudos Retrospectivos
17.
J Pain Symptom Manage ; 50(6): 778-85, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26300026

RESUMO

CONTEXT: The international cohort of hemodialysis patients is aging and increasing in number. Nephrologists have a therapeutic relationship with their patients that may span decades. Often overlooked components of chronic disease management include symptom control and assessment of health-related quality of life (HRQoL). OBJECTIVES: This study describes the symptom profile of a large cohort of patients with end-stage renal disease on hemodialysis in England and Ireland and evaluates how symptom burden and other factors influence quality-of-life scores. METHODS: A prospective cross-sectional observational study of hemodialysis patients was conducted in Ireland and England during 2011 and 2012. Two validated clinical tools were used to determine HRQoL and symptom burden. Demographic and clinical data were examined, and regression analysis was used to determine associations with HRQoL scores. RESULTS: A total of 893 patients on hemodialysis (mean [SD] age 64 [16] years) had a high symptom burden and poor HRQoL compared with population norms. Specifically, 64% of patients reported pain (95% confidence interval 61%-67%) and 79% reported weakness (95% confidence interval 75%-81%). A total of 43 percent of patients reported between six and 10 symptoms in the week preceding the survey. HRQoL was significantly and independently associated with poor mobility and pain and remained significant after adjusting for variations in clinical characteristics. Being listed on a transplant wait-list register was positively associated with HRQoL. CONCLUSION: These findings illustrate the high symptom burden and poor HRQoL of the hemodialysis population. Emphasis during clinical reviews on pain assessment and on assessing mobility plus interventions, such as pain management and physiotherapy/occupational therapy, are practical ways for renal teams to help improve patients' quality of life.


Assuntos
Falência Renal Crônica/psicologia , Falência Renal Crônica/terapia , Qualidade de Vida , Diálise Renal/psicologia , Idoso , Efeitos Psicossociais da Doença , Estudos Transversais , Inglaterra/epidemiologia , Feminino , Humanos , Irlanda/epidemiologia , Falência Renal Crônica/mortalidade , Falência Renal Crônica/fisiopatologia , Masculino , Pessoa de Meia-Idade , Dor/mortalidade , Dor/fisiopatologia , Dor/psicologia , Cuidados Paliativos/psicologia , Testes Psicológicos , Análise de Regressão , Índice de Gravidade de Doença
18.
BMJ Case Rep ; 20142014 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-24872478

RESUMO

The authors report the case of a 67-year-old woman with metastatic renal cell carcinoma (RCC) without prior nephrectomy, who had received long-term exposure (38 months) to the oral multi-targeted tyrosine kinase inhibitor (TKI), sunitinib. She had a sustained clinical and radiological response to her therapy, but had this therapy discontinued due to the rare development of nephrotic syndrome.


Assuntos
Antineoplásicos/efeitos adversos , Carcinoma de Células Renais/tratamento farmacológico , Indóis/efeitos adversos , Neoplasias Renais/tratamento farmacológico , Síndrome Nefrótica/induzido quimicamente , Proteínas Tirosina Quinases/antagonistas & inibidores , Pirróis/efeitos adversos , Idoso , Carcinoma de Células Renais/secundário , Esquema de Medicação , Feminino , Humanos , Neoplasias Renais/patologia , Neoplasias Pulmonares/secundário , Prognóstico , Sunitinibe
19.
J Med Case Rep ; 8: 409, 2014 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-25479831

RESUMO

INTRODUCTION: 5-oxoproline (pyroglutamic acid), an organic acid intermediate of the gamma-glutamyl cycle, is a rare cause of high anion gap metabolic acidosis. Acetaminophen and several other drugs have been implicated in the development of transient 5-oxoprolinemia in adults. We believe that reporting all cases of 5-oxoprolinemia will contribute to a better understanding of this disease. Here, we report the case of a patient who developed transient 5-oxoprolinemia following therapeutic acetaminophen use. CASE PRESENTATION: A 75-year-old Caucasian woman was initially admitted for treatment of an infected hip prosthesis and subsequently developed transient high anion gap metabolic acidosis. Our patient received 40 g of acetaminophen over a 10-day period. After the more common causes of high anion gap metabolic acidosis were excluded, a urinary organic acid screen revealed a markedly increased level of 5-oxoproline. The acidosis resolved completely after discontinuation of the acetaminophen. CONCLUSION: 5-oxoproline acidosis is an uncommon cause of high anion gap metabolic acidosis; however, it is likely that it is under-diagnosed as awareness of the condition remains low and testing can only be performed at specialized laboratories. The diagnosis should be suspected in cases of anion gap metabolic acidosis, particularly in patients with recent acetaminophen use in combination with sepsis, malnutrition, liver disease, pregnancy or renal failure. This case has particular interest in medicine, especially for the specialties of nephrology and orthopedics. We hope that it will add more information to the literature about this rare condition.


Assuntos
Acetaminofen/efeitos adversos , Equilíbrio Ácido-Base , Acidose/induzido quimicamente , Analgésicos não Narcóticos/efeitos adversos , Ácido Pirrolidonocarboxílico/sangue , Acidose/sangue , Idoso , Feminino , Humanos
20.
BMJ Case Rep ; 20132013 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-23605987

RESUMO

This report describes a case of drug-associated choreoathetosis in a patient receiving ciprofloxacin. A 72-year-old haemodialysis patient presented with a 4-day history of progressive weakness, restlessness and involuntary movements of all limbs. He had been prescribed ciprofloxacin 500 mg twice daily for a lower respiratory tract infection 7 days previously. He had generalised choreoathetosis affecting both upper and lower limbs. The temporal relationship with drug exposure and a dose which was on the upper limit for his renal impairment implicated ciprofloxacin as the culprit. His symptoms completely resolved within 1 week of drug withdrawal and never recurred subsequently.


Assuntos
Ciprofloxacina/efeitos adversos , Espasticidade Muscular/induzido quimicamente , Diálise Renal , Infecções Respiratórias/tratamento farmacológico , Idoso , Diagnóstico Diferencial , Discinesias/diagnóstico , Discinesias/tratamento farmacológico , Humanos , Masculino , Espasticidade Muscular/diagnóstico , Espasticidade Muscular/tratamento farmacológico
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