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Background: Home haemodialysis (HHD) has the potential to impact positively on patient outcomes and health resource management. There has been rejuvenated international interest in HHD in recent years. Aim: We aimed to review the activity and outcomes of the Irish HHD Programme since inception (2009-16). Design: Retrospective review. Methods: Patient data were collected using the national electronic Renal Patient database (eMEDRenal version 3.2.1) and individual centre records. All data were recorded in a coded fashion on a Microsoft Excel Spread-sheet and analysed with Stata SE software. Results: One hundred and one patients completed training and commenced HHD; a further fourty-five patients were assessed for HHD suitability but did not ultimately dialyse at home. Twenty patients switched to nocturnal HHD when this resource became available. The switch from conventional in-centre dialysis to HHD led to an increase in the mean weekly hours on haemodialysis (HD) and a reduction in medication burden for the majority of patients. The overall rate of arteriovenous fistula (AVF) as primary vascular access was 62%. Most HHD complications were related to access function or access-related infection. Over the 7-years, 29 HHD patients were transplanted and 9 patients died. No deaths resulted directly from a HHD complication or technical issue. Conclusions: Patient and technique survival rates compared favourably to published international reports. However, we identified several aspects that require attention. A small number of patients were receiving inadequate dialysis and require targeted education. Ongoing efforts to increase AVF and self-needling rates in HD units must continue. Psychosocial support is critical during the transition between dialysis modalities. [ABSTRACT FROM AUTHOR]

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.

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., (Copyright © 2019 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)

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.

Background: The contribution of novel risk factors to mortality in chronic kidney disease remains controversial., Aim: To explore the association of plasma fibrinogen with mortality among individuals with normal and reduced kidney function., Methods: We identified 9184 subjects, age 40 and over from the Third National Health and Nutrition Examination Survey (1988-94) with vital status assessed through 2006. Plasma fibrinogen was modeled as continuous variable and in quartile groups (0 to <7.7, 7.7 to <9.0, 9.0 to <10.5 and ≥ 10.5 µmol/l) with total and cardiovascular mortality across categories of glomerular filtration rate (eGFR); <60, 60-90, >90 ml/min/1.73 m(2) using Cox regression., Results: In multivariate analysis, the adjusted hazard ratio (HR) per 1 µmol/l (34 mg/dl) increase in fibrinogen was 1.07 [95% confidence interval (CI) 1.04-1.09] for total mortality and 1.06 (95% CI 1.03-1.09) for cardiovascular mortality. The adjusted HR for total mortality was 1.05 (1.01-1.09) for subjects with eGFR 60-90 ml/min/1.73 m(2) and 1.06 (1.02-1.10) for subjects with eGFR <60 ml/min/1.73 m(2). Subjects in the highest quartiles within each eGFR category; >90, 60-90 and <60 ml/min/1.73 m(2) experienced HRs of 1.45 (95% CI 1.03-2.03), 1.35 (95% CI 1.00-1.83) and 1.72 (95% CI 1.14-2.58), respectively, compared with subjects in the lowest quartile group. The patterns were similar for cardiovascular mortality., Conclusions: Plasma fibrinogen associates with mortality among subjects with mild to moderate kidney impairment as it does in subjects with normal kidney function and should be considered a therapeutic target for cardiovascular risk reduction., (© The Author 2014. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)