Publications by authors named "Andrew J Mallett"

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the fourth most common reason for commencement of dialysis globally. There is an urgent need for treatments to slow the loss of kidney function and prevent complications in people with ADPKD. A growing body of evidence suggests metformin may have a therapeutic role in slowing cyst progression in ADPKD.

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Background: People with kidney failure, unable to access kidney transplantation are disadvantaged in terms of their quality of life and overall survival. Despite this, regional, rural, and remote populations worldwide remain less likely to receive a kidney transplant and often experience unique difficulties throughout their transplant journey. This study aimed to explore the experiences of these kidney transplant recipients, including around current transplant processes to understand barriers to access for regional, rural, and remote populations.

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Introduction: Acute interstitial nephritis (AIN) is a common cause of acute kidney injury. It is characterized by tubular inflammation with eosinophils histologically. The mainstay treatment for AIN includes early diagnosis; underlying infection or systemic disease treatment; cessation of the offending agent; and corticosteroid therapy, when indicated.

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Genetic testing holds great potential to enhance the diagnosis and management of kidney disease, yet its integration into routine nephrology care remains limited and often delayed. Despite strong evidence supporting its clinical utility and cost effectiveness, significant barriers hinder its widespread adoption. This review examines care models designed to embed genetic testing into nephrology practice and proposes strategies to improve access for chronic kidney disease patients.

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Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necessary to ensure scalability, adoption and sustainability of iterative reanalysis. We developed a publicly available automated tool, Talos, and validated its performance using data from 1,089 individuals with rare genetic disease.

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Advances in genetic testing have attributed many cases of clinically unexplained kidney disease (UKD) to monogenic disorders with such reclarified diagnoses optimizing and individualizing patient care. Patients affected by UKD despite reasonable nephrological workup can benefit from genetic testing because it can reveal etiology, end protracted diagnostic odysseys, inform prognosis, guide management, avoid unnecessary treatments, confer broader implications for family members including transplantation, enable genetic counseling, and guide reproductive care. Recent studies have found diagnostic yield of genetic testing in UKD is between 11% and 32%, even in those without family history of kidney disease, with variants most frequently identified in COL4A3-5.

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Chronic kidney disease (CKD) affects approximately 9% of the global population, leading to increased risks of end-stage kidney disease (ESKD), cardiovascular disease (CVD), and mortality. Patients with CKD are a huge burden on health care resources globally. CKD is a complex condition influenced by a combination of genetic, environmental, and traditional risk factors.

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Renal Cell Carcinoma (RCC) may uncommonly present concurrently with anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis (AAV). Most instances are malignancies discovered incidentally during the work up after a diagnosis of AAV; however, the significant overlap between these disorders potentially suggests a more complex pathophysiology. We present the case of a 53-year-old gentleman who was diagnosed with metastatic RCC who later developed rapidly progressive kidney failure and a vasculitic rash after commencement of a tyrosine kinase inhibitor and was ultimately diagnosed with subsequent concurrent AAV.

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Aim: The prevention and management of recurrent kidney stones can be challenging and requires patients to modify their diet and daily rountines that impact their quality of life. Our study aims to describe the process of integrating consumer-prioritised topics and outcomes in guidelines on kidney stones to ensure patient relevance.

Methods: Two workshops were convened in Aotearoa New Zealand with people with kidney stones invited to identify topics and outcomes for inclusion in the guidelines.

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The Australia and New Zealand Live Kidney Donor (ANZLKD) Registry is the binational registry for recording live kidney donor outcomes in Australia and New Zealand. In this retrospective analysis, it is demonstrated that only 2.93% of living kidney donors in Australia across 2004-2021 have adequate follow-up data recorded in ANZLKD.

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Background: Despite higher rates of chronic kidney disease and kidney failure in rural and remote populations, these patients are less likely to receive a kidney transplant. Additional barriers to kidney transplantation are associated with the need to travel to metropolitan areas where medical testing and transplantation facilities are located. We determined the opinions, attitudes, and experiences of both health professionals and recent kidney transplant recipients regarding kidney transplantation processes in Australia for patients residing in regional, rural, and remote areas.

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Chronic kidney disease (CKD) is a multifactorial condition driven by diverse etiologies that lead to a gradual loss of kidney function. Although genome-wide association studies (GWAS) have identified numerous genetic loci linked to CKD, a large portion of its genetic basis remains unexplained. This knowledge gap may partly arise from the reliance on single biomarkers, such as estimated glomerular filtration rate (eGFR), to assess kidney function.

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Background And Hypothesis: Podocytopathy associated with likely pathogenic/pathogenic variants of TRPC6 (TRPC6-AP) has been recognised for about 20 years. As a result of its rarity however, the spectrum of clinical phenotypes and genotype-phenotype correlation of TRPC6-AP remains poorly understood. Here, we characterised clinical, histological, and genetic correlates of familial and sporadic patients with TRPC6-AP.

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Background: The role of clinician-researchers in regional healthcare is challenging. Balancing patient care, academic research, and mentoring junior staff significantly burdens these dedicated professionals. Therefore, the Australian healthcare system must provide institutional support for improving clinicians' academic performance.

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Unlabelled: Reduced kidney function (or kidney dysfunction) is commonly an exclusion criterion for randomised controlled trials (RCTs) in cancer. Consequently, high quality evidence for anticancer drug dosing in reduced kidney function is limited and no internationally agreed guidelines exist to inform prescribing decisions in this population. A methodology for guideline development was applied which did not require availability of RCTs but used critical appraisal of existing observational literature and group consensus.

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Unlabelled: The kidney disease: Improving Global Outcomes (KDIGO) guideline recommends assessing kidney function using glomerular filtration rate (GFR) either through direct measurement or through estimation (eGFR) and describes a standardised classification of reduced kidney function. KDIGO guidelines have been adopted by most internal medicine specialities for the assessment and classification of kidney function, but not by cancer medicine. The development of the International Consensus Guideline on Anticancer Drug Dosing in Kidney Dysfunction (ADDIKD) aims to overcome the perceived challenges with KDIGO recommendations by describing their utility in patients with cancer.

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Unlabelled: Part 2 of the International Consensus Guideline on Anticancer Drug Dosing in Kidney Dysfunction (ADDIKD) offers drug-specific consensus recommendations based on both evidence and practical experience. These recommendations build upon the kidney function assessment and classification guidelines established in Part 1 of ADDIKD. Here we illustrate how dosing recommendations differ between ADDIKD and existing guidance for four commonly used drugs: methotrexate, cisplatin, carboplatin and nivolumab.

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