Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.

Introduction: Diagnostic genomic sequencing is the emerging standard of care in nephrology. There is a growing need to scale up the implementation of genomic diagnostics nationally to improve patient outcomes. Methods: This pragmatic study provided genomic or genetic testing to patients with suspected monogenic kidney disease through a national network of kidney genetics clinics (KGCs). We sought to evaluate the experiences of implementing genomic diagnostics across Australia and associated diagnostic outcomes between 2013 and 2022. Results: We successfully established and expanded a nationwide network of 20 clinics as of 2022; concurrently developing laboratory, research, and education programs to scale the clinical application of genomics in nephrology. We report on an Australian cohort of 1506 kidney patients, of whom 1322 received their test results. We assessed barriers to implementation in the nephrology context, and where possible, applied real-time solutions to improve clinical processes over 10 years. Conclusion: Developing a multidisciplinary kidney genetics model across multiple health services nationally was highly successful. This model supported optimal care of individuals with monogenic kidney disease in an economically responsible way. It has continued to evolve with technological and service developments and is now set to scale further as genomic testing for kidney patients transitions to health care system funding.

The Point-of-Care Peritoneal Dialysis System Early Evaluation Study (POC-PDEE): A pilot proof-of-principal study of the Ellen Medical Devices Point-of-Care affordable peritoneal dialysis system.

The global unmet need for kidney replacement therapy means that millions of people die every year as they cannot afford treatment. Peritoneal dialysis (PD) offers comparable survival to haemodialysis and is often more affordable, but one barrier to increasing access is that conventional manufacturing and distribution of PD fluid is costly. Here we report the results from a pilot proof-of-principal study demonstrating for the first time that the Ellen Medical Devices Point-of-Care system can be used by patients to produce sterile PD fluid at the point-of-care. With further development, this low-cost system could offer a solution to the many millions of people around the world who currently cannot afford treatment for kidney failure.

Am I my students' nurse? Reflections on the nursing ethics of nursing education.

Despite having worked in higher education for over twenty years, I am still, first and foremost, a practicing nurse. My employer requires me to be a nurse and my regulator regards what I do as nursing. My practice is regulated by the Code and informed by nursing ethics. If I am nurse, practicing nursing, does that mean that my students are my patients? This paper considers how the relationship that I have with my students can be informed by the ethics of the nurse/patient relationship. After some initial theoretical preparation concerning argument from analogy, the paper identifies some areas for comparison between the two relationships. Areas of similarity and difference identify two areas of concern: Nurse education and educators regularly engage in coercion and surveillance in an attempt to increase student success, both of which would be considered outside nursing ethics. It is concluded that these coercive practices are not conducive to an environment where character is cultivated. Despite current financial and workforce pressures, nurse lecturers and more especially their managers would do well to return to the professional ethics of nursing to question and guide their practice.

Transdermal Magnesium for the Treatment of Peripheral Neuropathy in Chronic Kidney Disease: A Single-Arm, Open-Label Pilot Study.

Introduction: Peripheral neuropathy is common in chronic kidney disease (CKD) and may be multifactorial in origin, resulting from uremia, hyperkalemia, and diabetes. Previous studies have suggested that magnesium plays a crucial role in chronic pain. Studies evaluating magnesium in neuropathy have demonstrated mixed results. Aims: To provide preliminary data on the effectiveness of transdermal magnesium in treating peripheral neuropathy related to CKD. Methods: Twenty participants with advanced CKD were enrolled from a major teaching hospital clinic in Sydney, Australia. Each participant was provided with a spray bottle containing magnesium chloride and instructed to apply five sprays to each limb affected by neuropathy daily for 12 weeks. Participants completed the Neuropathy Total Symptom Score-6 (NTSS-6) every 4 weeks during follow-up. Serum magnesium concentrations were measured at 4-week intervals. Results: Twenty participants were recruited, of which 14 completed the 12-week follow-up period. Mean age was 78.90 years, 80.00% were female and mean estimated glomerular filtration rate was 9.78 mL/min/1.73 m2. With intention to treat analysis (mean [95% confidence interval]), NTSS-6 was significantly reduced at weeks 8 (4.04 [2.43-5.65]) and 12 (4.26 [2.47-6.05]), compared with baseline (6.92 [5.29-8.55]), p < 0.05. Serum magnesium concentration did not change significantly during the study. Conclusion: This pilot study suggests that transdermal magnesium may be beneficial in reducing frequency and severity of peripheral neuropathic symptoms in patients with advanced CKD. Trial Registration: australianclinicaltrials.gov.au. Identifier: ACTRN12621000841875. Date first registered January 7, 2021.

Dialysis Disequilibrium: Is Acidosis More Important than Urea?

Dialysis disequilibrium syndrome is a severe complication associated with dialysis treatment. Manifestations may range from mild such as headache to severe such as seizures and coma. Risk factors for development include initial dialysis treatment, uraemia, metabolic acidosis, and extremes of age. We report a case of dialysis disequilibrium in a patient with a failing kidney transplant secondary to the recurrence of IgA nephropathy. Disturbance in cognition and neurologic functioning occurred six hours after the completion of initiation of intermittent haemodialysis. During two sessions of intermittent haemodialysis of 3 and 4 hours, urea was reduced by 21.9 and 17.2 mmol/L and measured serum osmolality was reduced by 25 and 14 mOsm/kg, respectively. Subsequent admission to the intensive care unit and initiation of continuous renal replacement therapy for 48 hours resulted in complete resolution of symptoms. In this case report, we discuss atypical clinical and radiologic features of dialysis disequilibrium occurring with modest reductions in urea and serum osmolality.

Effect of Hemodiafiltration on the Progression of Neuropathy with Kidney Failure: A Randomized Controlled Trial.

BACKGROUND AND OBJECTIVES: Neuropathy is a common complication of kidney disease that lacks proven disease-modifying treatments. Hemodiafiltration improves clearance of uremic toxins and is associated with better nerve function than hemodialysis. We aimed to determine whether hemodiafiltration reduces the progression of neuropathy in people receiving hemodialysis. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The Filtration in the Neuropathy of End-Stage Kidney Disease Symptom Evolution (FINESSE) study was an open-label, blinded end point assessment, controlled trial that randomized maintenance hemodialysis recipients to hemodiafiltration or high-flux hemodialysis for 48 months or until death or cessation of dialysis at four study centers. The primary outcome was the mean change in the yearly modified total neuropathy score from baseline, with time points weighted equally. RESULTS: A total of 124 participants were randomized and followed for a mean of 41 months. At baseline, neuropathy was present in 91 (73%) participants (modified total neuropathy score greater than or equal to two), and 38 (31%) had moderate to severe neuropathy (modified total neuropathy score 9-28). Convection volume in the hemodiafiltration arm was a median of 24.7 (interquartile range, 22.4-26.5) L. The mean modified total neuropathy score (SEM) worsened by 1.7 (0.4)/28 and 1.2 (0.4)/28 in the hemodiafiltration and hemodialysis groups, respectively, with a mean difference of 0.5 (95% confidence interval, -0.7 to 1.7; P=0.37). There was no difference in survival (hazard ratio, 1.24; 95% confidence interval, 0.61 to 2.51; log rank P=0.55) or any of the prespecified adverse events. There was no difference between groups in the number of participants who suffered an adverse event adjusted by follow-up time (relative risk, 1.05; 95% confidence interval, 0.83 to 1.32; P=0.68). CONCLUSIONS: Neuropathy is still a common complication of kidney disease without disease-altering therapy. Hemodiafiltration did not affect neuropathy progression compared with hemodialysis. CLINICAL TRIAL REGISTRY NAME AND REGISTRATION NUMBER: Filtration in the Neuropathy of End-Stage Kidney Disease Symptom Evolution (FINESSE), ACTRN12609000615280.

Life's hard and then you die: the end-of-life priorities of people experiencing homelessness in the UK.

BACKGROUND: People experiencing homelessness often die young and without adequate support. In the UK, they fail to access palliative care services and their end-of-life priorities remain poorly understood. AIMS: To explore the end-of-life concerns, fears, preferences and priorities of a sample of people experiencing homelessness in the UK. METHODS: This is an interpretive phenomenology. Data collected through semi-structured, audio-recorded, face-to-face interviews with 21 homeless participants in the UK were analysed iteratively using thematic analysis. Findings have been interpreted through the lens of Merleau-Ponty's philosophy. RESULTS: Eight themes are reported: spiritual concerns; practical concerns; fear of needing care; fear of being forgotten; preference for dying suddenly; preference for being somewhere comfortable where people know me; prioritising autonomy and self-determination; and prioritising authenticity. CONCLUSION: A strengths-based, trauma-informed, person-centred, collaborative 'compassionate community' approach to care is recommended for people experiencing homelessness at end of life.

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.

There is increasing appreciation of nephronophthisis (NPHP) as an autosomal recessive cause of kidney failure and earlier stages of chronic kidney disease among adults. We identified 2 families with presumed adult-diagnosed nonsyndromic NPHP and negative diagnostic genetic testing results from our Renal Genetics Clinic. Both had 2 affected siblings without extrarenal phenotypes. After informed consent, research whole-genome sequencing was undertaken. Biallelic NPHP4 variants were identified in trans and clinically confirmed in all 4 affected individuals, confirming a genetic diagnosis. Participant 1 of the first family (F1P1) had kidney failure diagnosed at 19 years of age. An affected younger sibling (F1P2) reached kidney failure at age 15 years after kidney biopsy suggested NPHP. Pathogenic variants detected in NPHP4 in this family were NM_015102.4:c.3766C>T (p.Gln1256*) and a 31-kb deletion affecting exons 12 to 16. In the second family, F2P3 reached kidney failure at age 27 years having undergone kidney biopsy suggesting NPHP. An affected younger sibling (F2P4) has chronic kidney disease stage 4 at age 39 years. The NPHP4 variants detected were NM_015102.4:c.1998_1999del (p.Tyr667Phefs*23) and c.3646G>T (p.Asp1216Tyr). The latter variant was initially missed in diagnostic sequencing due to inadequate NPHP4 coverage (94.3% exonic coverage). With these reports, we identify NPHP4 as an appreciable genetic cause for adult-diagnosed nonsyndromic NPHP that should be considered by adult nephrologists.

Randomised controlled trial of the impact of haemodiafiltration on uraemic neuropathy: FINESSE study protocol.

INTRODUCTION: The majority of patients undergoing haemodialysis (HD) show evidence of uraemic neuropathy, a condition with no known disease-modifying treatments. The pathogenesis of uraemic neuropathy is poorly understood, but may be related to cumulative exposure to middle molecules or other solutes such as potassium. It is not known whether haemodiafiltration (HDF) reduces the progression of uraemic neuropathy. METHODS AND ANALYSIS: Filtration In the Neuropathy of End-Stage kidney disease Symptom Evolution (FINESSE) is a multicentre, randomised, open-label, blinded endpoint assessment, controlled trial designed to assess the impact of HDF versus HD on uraemic neuropathy. Maintenance HD patients will be randomised in a 1:1 ratio to receive HDF or HD with high-flux membranes for 4 years. The primary endpoint is the difference in the mean change in Total Neuropathy Score (TNS)-a measure of peripheral neuropathy combining symptoms, signs and nerve conduction velocity-over the study period. Secondary outcomes include change at annual timepoints in the TNS and the Neuropathy Symptom Score; and in morbidity, mortality and safety events. ETHICS AND DISSEMINATION: The FINESSE trial has been approved by the Ethics Review Committee of the Sydney South West Area Health Service (HREC/09/RPAH/268) and of Adventist HealthCare Limited (2012-027). When published in a peer-reviewed journal, it will be the largest and longest reported randomised trial aimed at reducing the incidence and severity of uraemic neuropathy. It will advance the understanding of the natural history of uraemic neuropathy and the influence of convective therapies on both neurophysiological and clinical outcomes. It will also allow refinement of current hypotheses surrounding the pathogenesis of uraemic neuropathy and, most importantly, may lead to improvements in the lives of the many patients affected by this debilitating condition. TRIAL REGISTRATION NUMBER: ACTRN12609000615280.

The spiritual concerns of people experiencing homelessness at the end of life.

BACKGROUND:: Spiritual care is a fundamental component of holistic end-of-life (EoL) care. AIM:: To explore what is known about the spiritual concerns of people experiencing homelessness towards the EoL. METHODS:: A narrative literature review was conducted from 1997 to June 2018 using CINAHL Complete, MEDLINE and PubMed. This identified just 11 relevant papers; eight papers report on studies based in the US, one paper reports on a study based in the Republic of Ireland (ROI), and two of the papers are literature reviews. RESULTS:: Both the ROI and US studies report the primacy of religious beliefs and spiritual experience for people experiencing homelessness considering EoL issues. However, the findings of studies from the US and the ROI are not necessarily transferable to the other populations of people experiencing homelessness. Furthermore, it cannot be assumed that the spiritual needs of people experiencing homelessness mirror those of the housed population. CONCLUSION:: There is a need for further research into the international perspective on the spiritual needs of homeless people towards the EoL, especially in secular countries.

Nursing management of people experiencing homelessness at the end of life.

Homelessness is a complex and multidimensional issue often involving a combination of personal vulnerability, the limitations of social housing, and inadequacies in welfare support. Providing palliative and end-of-life care to people experiencing homelessness is challenging, both to individuals receiving care and nurses aiming to meet their complex needs. This article discusses what is understood by the concept of 'homelessness' and examines the barriers to accessing effective healthcare for people who are homeless and have life-limiting conditions. The authors review the research into end of life care for people experiencing homelessness and identify areas for further investigation, notably the lack of evidence regarding the end of life care priorities of these individuals. There is a focus on the availability of healthcare services for people who are homeless at the end of life, as well as the factors that should be considered if evidence-based healthcare services for this group of people are to be improved in the future.

The subversion of Mill and the ultimate aim of nursing.

This is lightly edited and referenced version of a presentation given at the 20th International Philosophy of Nursing conference in Quebec on 23rd August 2016. Philosophical texts are not given the same prominence in nurse education as their more valued younger sibling, primary research evidence, but they can influence practice through guidelines, codes and espoused values. John Stuart Mill's harm principle, found in On Liberty, is not a universal law, and only a thoroughgoing libertarian would defend it as such, though it, or its remnants, can be seen can be seen in policy documents. But its influence is weakening. Smoking bans in enclosed spaces were initially justified with other-regarding considerations, but judgements from unsuccessful legal challenges from patients in UK psychiatric hospitals rely on preventing harm to the smoker, even when smoking outside, which does not harm others. In the wake of legislation, no-smoking policies enacted by hospitals are becoming more aggressive, banning smoking both inside and outside, and extending the use of power gained through employment to prevent nurses assisting patients enjoy a lawful habit. Mill's dictum has been subverted, and this speaks to the fundamental purpose of nursing. Should nurses collude and willingly exert their power for their version of the good of the patient? Or should they instead reaffirm values that support and facilitate life choices made by autonomous people? The paper supports the latter option, and this has wider application for nursing which can be illuminated, if not settled, by revisiting Mill and his famous dictum.

Carvedilol and Cardiac Biomarkers in Dialysis Patients: Secondary Analysis of a Randomized Controlled Trial.

BACKGROUND/AIMS: Cardiac biomarkers are associated with cardiac abnormalities and adverse outcomes in dialysis patients. Our aim was to report the effect of the beta-blocker carvedilol on cardiac biomarkers in adult dialysis patients. METHODS: The Beta-Blocker to Lower Cardiovascular Dialysis Events Feasibility Study was a randomized controlled trial comparing carvedilol to placebo. Serum and plasma were collected before the run-in, then 6 and 12 months post-randomization to measure B-type Natriuretic Peptide (BNP), N-terminal BNP (NT-ProBNP), high-sensitivity cardiac troponins I (hs-TnI) and T (hs-TnT), and galectin-3. Left ventricular global longitudinal strain (GLS) was measured by echocardiography at baseline. RESULTS: Seventy-two participants were recruited of whom 49 completed the run-in and were randomized to carvedilol (n=26) or placebo (n=23). Baseline echocardiography demonstrated median (inter-quartile range) GLS of -14.27% (-16.63 to -11.93). NTproBNP and hs-TnT correlated with GLS (Spearman's rho=0.34 [p=0.018] and rho=0.28 [p=0.049], respectively). Median change scores from baseline to 12 months did not differ significantly between participants with complete biomarker data randomized to carvedilol (n=15) or placebo (n=16) for any biomarkers. CONCLUSIONS: NT-proBNP and hs-TnT were associated with GLS. However, changes in levels of the biomarkers from baseline to 12 months were not different between groups randomized to carvedilol and placebo.

Difficult conversations: Australian Indigenous patients' views on kidney transplantation.

BACKGROUND: Indigenous Australians suffer a disproportionate burden of end stage kidney disease (ESKD) but are significantly less likely to receive a transplant. This study explores Indigenous ESKD patients' views on transplantation as a treatment option. METHODS: The Improving Access to Kidney Transplants (IMPAKT) research program investigated barriers to kidney transplantation for Indigenous Australians. An interview study, conducted in 2005-2006, elicited illness experience narratives from 146 Indigenous patients, including views on transplant. Interviews were conducted at 26 sites that collectively treat the majority of Indigenous ESKD patients. Key themes were identified via team consensus meetings, providing a flexible framework and focus for continued coding. RESULTS: Four inter-related themes were identified in patient commentary: a very high level (90% of respondents) of positive interest in transplantation; patients experienced a range of communication difficulties and felt uninformed about transplant; family involvement in decision-making was constrained by inadequate information; and patients needed to negotiate cultural and social sensitivities around transplantation. CONCLUSIONS: Indigenous ESKD patients demonstrated an intense interest in transplantation preferring deceased over living kidney donation. Patients believe transplant is the path most likely to support the re-establishment of their 'normal' family life. Patients described themselves as poorly informed; most had only a rudimentary knowledge of the notion of transplant but no understanding of eligibility criteria, the transplant procedure and associated risks. Patients experienced multiple communication barriers that - taken together - undermine their engagement in treatment decision-making. Families and communities are disempowered because they also lack information to reach a shared understanding of transplantation. Cultural sensitivities associated with transplantation were described but these did not appear to constrain patients in making choices about their own health. Transplant units and local treatment providers should collaborate to develop user-friendly, culturally informed and region-specific patient education programs. Quality improvement cycles should underpin the development of national guidelines for patient education. Noting Indigenous patients' intense interest in transplantation, and nephrologists' concerns regarding poor transplant outcomes, research should prioritise exploring the predictors of transplant outcomes for Indigenous Australians.

[Comparison of the codes of ethics in different countries]. / Comparaison des codes de déontologie selon les pays.

In most countries, nursing ethics are set out in a code written by the body regulating the profession or by a professional organisation. An examination of these texts shows that differences exist from one country to another, both in terms of the general orientation and the content.

Fatal Dialysis Vascular Access Hemorrhage.

Bleeding from dialysis vascular access (arteriovenous fistulas, arteriovenous grafts, and vascular catheters) is uncommon. Death from these bleeds is rare and likely to be under-reported, with incident rates of fewer than 1 episode for every 1,000 patient-years on dialysis, meaning that dialysis units may experience this catastrophic event only once a decade. There is an opportunity to learn from (and therefore prevent) these bleeding deaths. We reviewed all reported episodes of death due to vascular access bleeding in Australia and New Zealand over a 14-year period together with individual dialysis units' root cause analyses on each event. In this perspective, we provide a clinically useful summary of the evidence and knowledge gained from these rare events. Our conclusion is that death due to dialysis vascular access hemorrhage is an uncommon, catastrophic, but potentially preventable event if the right policies and procedures are put in place.