Canadian Journal of Kidney Health and Disease最新文献

{"title":"Hemophagocytic Lymphohistiocytosis in a Remote Kidney Transplant Recipient Triggered by HSV Infection With Complete Recovery: An Educational Case Report.","authors":"Anjana Gopal, S Joseph Kim","doi":"10.1177/20543581241253921","DOIUrl":"10.1177/20543581241253921","url":null,"abstract":"<p><strong>Rationale: </strong>Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease characterized by excessive immune activation. It is more commonly seen in children but increasingly recognized in adults. Primary HLH relies on a genetic predisposition, whereas secondary HLH develops in the context of infections, malignancies, or autoimmune diseases. Hemophagocytic lymphohistiocytosis has been rarely described in patients on immunosuppressive therapy after kidney transplant. Here, we describe a case of HLH in a patient with a remote history of kidney transplant, triggered by a viral infection.</p><p><strong>Presenting concerns: </strong>A 45-year-old female, with a kidney transplant in 2009 for IgA nephropathy, presented with fever, vomiting, and back pain of 1-week duration. She was on triple immunosuppression consisting of daily doses of prednisone 5 mg, azathioprine 100 mg, and tacrolimus extended release 1 mg, and a baseline creatinine of 130 µmol/L.</p><p><strong>Diagnosis: </strong>Initial investigations showed anemia, leukopenia, elevated serum creatinine, transaminitis, and markedly increased ferritin of 67 600 µg/L which prompted a bone marrow biopsy to rule out HLH. The bone marrow showed an increased proportion of CD68+ cells (macrophages) with more than 5 in 1000 hemophagocytic macrophages. Her soluble IL-2 receptor (CD25) level was 3406 pg/mL (606-2299 pg/mL) which was mildly elevated. She fulfilled 4 of the 8 criteria for HLH and with an H score was 223 which suggested a diagnosis of HLH with 96.9% probability. An extensive secondary workup for possible triggers for HLH led to a swab from genital ulcers that was positive for herpes simplex virus (HSV) type 2. The polymerase chain reaction (PCR) in the blood for HSV type 2 was also positive.</p><p><strong>Interventions: </strong>Given the diagnosis of HSV type 2 as the putative trigger for HLH, she was started on parenteral acyclovir for 2 weeks followed by oral valacyclovir for 2 more weeks. In the context of infection, the azathioprine was stopped while low-dose steroid and tacrolimus were continued.</p><p><strong>Outcomes: </strong>With the initiation of treatment for HSV infection, leukopenia, creatinine, and transaminases improved along with ferritin levels. At her 6-month follow-up, her blood counts and liver enzymes had normalized, and ferritin was 566 µg/L.</p><p><strong>Teaching points: </strong>Hemophagocytic lymphohistiocytosis is a rare disease in kidney transplant recipients with a high mortality rate. It can occur even in remote kidney transplant recipients so a high degree of suspicion is necessary to lead to a prompt diagnosis. Infections are common triggers for secondary HLH. Early identification and treatment of the triggering infection may improve outcomes.</p>","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11119350/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141154512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Challenges to Implementing Environmentally Sustainable Kidney Care in LMICs: An Opinion Piece.","authors":"Divya Bajpai, Workagegnehu Hailu, Peace Bagasha, Onu Ugochi Chika, Ehab Hafiz, Elliot Koranteng Tannor, Eranga Wijewickrama, Robert Kalyesubula, Sabine Karam, Viviane Calice-Silva, Isabelle Ethier, Shaifali Sandal","doi":"10.1177/20543581241246835","DOIUrl":"10.1177/20543581241246835","url":null,"abstract":"","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11107313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141075429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mind the Gap in Kidney Care: Translating What We Know Into What We do.","authors":"Valerie A Luyckx, Katherine R Tuttle, Dina Abdellatif, Ricardo Correa-Rotter, Winston W S Fung, Agnès Haris, Li-Li Hsiao, Makram Khalife, Latha A Kumaraswami, Fiona Loud, Vasundhara Raghavan, Stefanos Roumeliotis, Marianella Sierra, Ifeoma Ulasi, Bill Wang, Siu-Fai Lui, Vassilios Liakopoulos, Alessandro Balducci","doi":"10.1177/20543581241252506","DOIUrl":"10.1177/20543581241252506","url":null,"abstract":"<p><p>Historically, it takes an average of 17 years to move new treatments from clinical evidence to daily practice. Given the highly effective treatments now available to prevent or delay kidney disease onset and progression, this is far too long. The time is now to narrow the gap between what we know and what we do. Clear guidelines exist for the prevention and management of common risk factors for kidney disease, such as hypertension and diabetes, but only a fraction of people with these conditions worldwide are diagnosed, and even fewer are treated to target. Similarly, the vast majority of people living with kidney disease are unaware of their condition, because in the early stages, it is often silent. Even among patients who have been diagnosed, many do not receive appropriate treatment for kidney disease. Considering the serious consequences of kidney disease progression, kidney failure, or death, it is imperative that treatments are initiated early and appropriately. Opportunities to diagnose and treat kidney disease early must be maximized beginning at the primary-care level. Many systematic barriers exist, ranging from patient to clinician to health systems to societal factors. To preserve and improve kidney health for everyone everywhere, each of these barriers must be acknowledged so that sustainable solutions are developed and implemented without further delay.</p>","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11102772/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and Validation of a Treatment Algorithm for Osteoarthritis Pain Management in Patients With End-Stage Kidney Disease Undergoing Hemodialysis.","authors":"Mai Mohsen, Jordanne Feldberg, Angelina Abbaticchio, S Vanita Jassal, Marisa Battistella","doi":"10.1177/20543581241249365","DOIUrl":"10.1177/20543581241249365","url":null,"abstract":"<p><strong>Background: </strong>Although osteoarthritis is common in the hemodialysis population and leads to poor health outcomes, pain management is challenged by the absence of clinical guidance. A treatment algorithm was developed and validated to aid hemodialysis clinicians in managing osteoarthritis pain.</p><p><strong>Objective: </strong>The objective was to develop and validate a treatment algorithm for managing osteoarthritis pain in patients undergoing hemodialysis.</p><p><strong>Design: </strong>A validation study was conducted based on Lynn's method for content validation.</p><p><strong>Setting: </strong>To develop and validate a treatment algorithm, interviews were conducted virtually by the primary researcher with clinicians from various institutions across the Greater Toronto and Hamilton Area in Ontario.</p><p><strong>Patients: </strong>The treatment algorithm was developed and validated for the management of osteoarthritis pain in patients on hemodialysis. Patients were not involved in the development or validation of the tool.</p><p><strong>Measurements: </strong>The algorithm was measured for content and face validity. Content validity was measured by calculating the content validity index of each component (I-CVI) of the algorithm and the overall scale validity index (S-CVI). Face validity was assessed by calculating the percentage of positive responses to the face validity statements.</p><p><strong>Methods: </strong>A draft algorithm was developed based on literature searches and expert opinion and validated by interviewing nephrology and pain management clinicians. Through consecutive rounds of 1:1 interviews, content and face validity were assessed by asking participants to rate the relevance of each component of the algorithm and indicate their level of agreeability with a series of statements. Following each round, the I-CVI of the algorithm as well as the S-CVI was calculated and the percentage of positive responses to the statements was determined. The research team revised the algorithm in response to the findings. The final algorithm provides a stepwise approach to the non-pharmacologic and pharmacologic management of pain, including topical, oral, and opioid use.</p><p><strong>Results: </strong>A total of 18 clinicians from 7 institutions across the Greater Toronto and Hamilton Area were interviewed (10 pharmacists, 5 nurse practitioners, and 3 physicians). The average S-CVI of the algorithm across all 3 rounds was 0.93. At least 78% of participants provided positive responses to the face validity statements.</p><p><strong>Limitations: </strong>An algorithm was developed based on input from clinicians working in the province of Ontario, limiting the generalizability of the algorithm across provinces. In addition, the algorithm did not include the perspectives of primary care providers or patients/caregivers.</p><p><strong>Conclusions: </strong>An algorithm for the management of osteoarthritis pain in the hemodialysis","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11092542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140920961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Weighing the Pros and Cons of Everything\": A Qualitative Descriptive Study Exploring Perspectives About Living Donor Kidney Transplantation From Parents of Chinese Canadian Pediatric Patients With Chronic Kidney Disease.","authors":"Sarah J Pol, Enid K Selkirk, Alameen Damer, Istvan Mucsi, Susan Abbey, Beth Edwards, Kenneth Fung, Jagbir Gill, Paula Neves, Suk Yin Ng, Rulan S Parekh, Linda Wright, Minglin Wu, Samantha J Anthony","doi":"10.1177/20543581241249872","DOIUrl":"10.1177/20543581241249872","url":null,"abstract":"<p><strong>Background: </strong>As of 2021, more than 6000 children and youth in Canada were living with end-stage kidney disease (ESKD), for which kidney transplantation is considered the preferred treatment by health professionals. Research shows that living donor kidney transplantation (LDKT) has superior allograft and recipient survival compared to deceased donor kidney transplantation (DDKT). However, in a pediatric setting, the choice of LDKT or DDKT is a summative consideration of factors weighed carefully by the patient's family, health care team, and patient. Decision-making surrounding transplantation may be more complex for racial and ethnic minorities as culturally specific values and beliefs are interwoven within dominant understandings and concepts of health and accepted models of health care. For example, Chinese Canadians have an increased risk of ESKD, yet reduced access to LDKT compared to White patients, despite being the largest visible minority population in Canada.</p><p><strong>Objective: </strong>The objective of this qualitative study is to deepen our understandings of the decision-making process surrounding DDKT versus LDKT among parents of Chinese Canadian pediatric patients with chronic kidney disease (CKD).</p><p><strong>Design: </strong>Qualitative descriptive study design.</p><p><strong>Setting: </strong>The Nephrology Program at The Hospital for Sick Children in Toronto, Canada.</p><p><strong>Participants: </strong>Caregivers of Chinese Canadian patients with CKD, 18 years of age or older, and who spoke English, Cantonese, or Mandarin.</p><p><strong>Methods: </strong>One-on-one, semistructured interviews were conducted virtually, by a member of the research team and were audio-recorded and transcribed verbatim. Thematic analysis was used to explore participants' shared experience.</p><p><strong>Results: </strong>Seven interviews were conducted with 6 mothers and 1 father of 6 Chinese Canadian pediatric patients with CKD: 4 patients had undergone a kidney transplant, and 2 were not yet listed for transplant. Analysis of data highlighted that cultural influences affected whether parents shared with others about their child's illness and experience. The cultural understanding that it is inappropriate to burden others contributed to the creation of an isolating experience for participants. Cultural influences also impacted whether parents asked others to be a living donor as participants articulated this would place a physical burden on the living donor (e.g., potential risk to their health) and an emotional burden on the participant as they would be indebted to a willing donor. Ultimately, parents' decision to choose DDKT or LDKT for their patient-child was a result of evaluating both options carefully and within an understanding that the ideal treatment choice reflected what was best for all family members.</p><p><strong>Limitations: </strong>Findings reflect experiences of a small sample from a single recruitment si","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11088299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140913681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From Prophecy to Plate: How to Actualize a Planetary Menu for Kidney Disease Nutrition.","authors":"Dani Renouf, Michelle M Y Wong","doi":"10.1177/20543581241244965","DOIUrl":"10.1177/20543581241244965","url":null,"abstract":"","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11072064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140857001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathways for Diagnosing and Treating CKD-Associated Pruritus: A Narrative Review.","authors":"Claudio Rigatto, David Collister, Alexandre Granger-Vallée, Louis Girard, Jay Hingwala, Angelo Karaboyas, Adeera Levin, Philip McFarlane, Ron Pisoni, Bhanu Prasad, Normand Proulx, Daniel Schwartz, Manish Sood, Rita Suri, Karthik Tennankore","doi":"10.1177/20543581241238808","DOIUrl":"https://doi.org/10.1177/20543581241238808","url":null,"abstract":"<p><strong>Purpose of review: </strong>Chronic kidney disease (CKD)-associated pruritus is a common, persistent, and distressing itch experienced by patients across the CKD spectrum. Although the disorder is associated with adverse outcomes and poor health-related quality of life, it remains underdiagnosed and undertreated. The purpose of this narrative review is to offer health care providers guidance on how to effectively identify, assess, and treat patients with CKD-associated pruritus, with the goal of reducing symptom burden and improving patient-important outcomes, such as quality of life (QoL).</p><p><strong>Sources of information: </strong>A panel of nephrologists and researchers from across Canada and the United States was assembled to develop this narrative review based on the best available data, current treatment guidelines, and their clinical experiences.</p><p><strong>Methods: </strong>A panel of nephrologists who actively care for patients with pruritus receiving dialysis from across Canada was assembled. Two researchers from the United States were also included based on their expertise in the diagnosis and management of CKD-associated pruritus. Throughout Spring 2023, the panel met to discuss key topics in the identification, assessment, and management of CKD-associated pruritus. Panel members subsequently developed summaries of the pertinent information based on the best available data, current treatment guidelines, and added information on their own clinical experiences. In all cases, approval of the article was sought and achieved through discussion.</p><p><strong>Key findings: </strong>This narrative review provides pragmatic guidance addressing: (1) methods for screening CKD-associated pruritus, (2) assessing severity, (3) management of CKD-associated pruritus, and (4) suggested areas for future research. The panel developed a 3-pillar framework for proactive assessment and severity scoring in CKD-aP: systematic screening for CKD-associated pruritus (pillar 1), assessment of pruritus intensity (pillar 2), and understanding the impact of CKD-associated pruritus on the patient's QoL (pillar 3). Management of CKD-associated pruritus can include ensuring optimization of dialysis adequacy, achieving mineral metabolism targets (ie, calcium, phosphate, and parathyroid hormone). However, treatment of CKD-associated pruritus usually requires additional interventions. Patients, regardless of CKD-associated pruritus severity, should be counseled on adequate skin hydration and other non-pharmacological strategies to reduce pruritus. Antihistamines should be avoided in favor of evidence-based treatments, such as difelikefalin and gabapentin.</p><p><strong>Limitations: </strong>A formal systematic review (SR) of the literature was not undertaken, although published SRs were reviewed. The possibility for bias based on the experts' own clinical experiences may have occurred. Key takeaways are based on the current available evidence, of which","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11047256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140854340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perceptions and Information-Seeking Behavior Regarding COVID-19 Vaccination Among Patients With Chronic Kidney Disease in 2023: A Cross-Sectional Survey.","authors":"Omosomi Enilama, Cynthia MacDonald, Pearl Thompson, Umair Khan, Selina Allu, Mary Beaucage, Kevin Yau, Matthew J Oliver, Michelle A Hladunewich, Adeera Levin","doi":"10.1177/20543581241242550","DOIUrl":"https://doi.org/10.1177/20543581241242550","url":null,"abstract":"<p><strong>Background: </strong>People living with chronic kidney disease (CKD) face an increased risk of severe outcomes such as hospitalization or death from COVID-19. COVID-19 vaccination is a vital approach to mitigate the risk and severity of infection in patients with CKD. Limited information exists regarding the factors that shape COVID-19 vaccine uptake, including health information-seeking behavior and perceptions, within the CKD population.</p><p><strong>Objective: </strong>The objectives were to describe among CKD patients, (1) health information-seeking behavior on COVID-19, (2) their capacity to comprehend and trust COVID-19 information from different sources, and (3) their perceptions concerning COVID-19 infection and vaccination.</p><p><strong>Design/setting: </strong>Cross-sectional web-based survey administered in British Columbia and Ontario from February 17, 2023, to April 17, 2023.</p><p><strong>Participants: </strong>Chronic kidney disease G3b-5D patients and kidney transplant recipients (CKD G1T-5T) enrolled in a longitudinal COVID-19 vaccine serology study.</p><p><strong>Methods and measurements: </strong>The survey consisted of a questionnaire that included demographic and clinical data, perceived susceptibility of contracting COVID-19, the ability to collect, understand, and trust information on COVID-19, as well as perceptions regarding COVID-19 vaccination. Descriptive statistics were used to present the data with values expressed as count (%) and chi square tests were performed with a significance level set at <i>P</i> ≤ .05. A content analysis was performed on one open-ended response regarding respondents' questions surrounding COVID-19 infection and vaccination.</p><p><strong>Results: </strong>Among the 902 patients who received the survey via email, 201 completed the survey, resulting in a response rate of 22%. The median age was 64 years old (IQR 53-74), 48% were male, 51% were university educated, 32% were on kidney replacement therapies, and 57% had received ≥5 COVID-19 vaccine doses. 65% of respondents reported that they had sought out COVID-19-related information in the last 12 months, with 91% and 84% expressing having understood and trusted the information they received, respectively. Those with a higher number of COVID-19 vaccine doses were associated with having sought out (<i>P</i> =.017), comprehended (<i>P</i> < .001), and trusted (<i>P</i> =. 005) COVID-19-related information. Female sex was associated with expressing more concern about contracting COVID-19 (<i>P</i> = .011). Most respondents strongly agreed to statements regarding the benefits of COVID-19 vaccination. Respondents' questions about COVID-19 infection and vaccination centered on 4 major themes: COVID-19 vaccination strategy, vaccine effectiveness, vaccine safety, and the impact of COVID-19 infection and vaccination on kidney health.</p><p><strong>Limitations: </strong>This survey was administered within the Canadian health care context to","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11020724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140859806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings.","authors":"Clara Schott, Samantha Colaiacovo, Cadence Baker, Matthew A Weir, Dervla M Connaughton","doi":"10.1177/20543581241242562","DOIUrl":"https://doi.org/10.1177/20543581241242562","url":null,"abstract":"<p><strong>Rationale: </strong>Alport Syndrome (AS) is a progressive genetic condition characterized by chronic kidney disease (CKD), hearing loss, and eye abnormalities. It is caused by mutations in the genes <i>COL4A3, COL4A4</i>, and <i>COL4A5</i>. Heterozygous mutations in <i>COL4A4</i> and <i>COL4A3</i> cause autosomal dominant Alport Syndrome (ADAS), and a spectrum of phenotypes ranging from asymptomatic hematuria to CKD, with variable extra-renal features. In the past, heterozygous mutations in these genes were thought to be benign, however recent studies show that about 30% of patients can progress to CKD, and 15% can progress to end stage kidney disease (ESKD).</p><p><strong>Presenting concerns: </strong>We present a case of a woman who was noted to have microscopic hematuria pre-living kidney donation. Genetic testing revealed a heterozygous variant of uncertain significance (VUS) in the <i>COL4A4</i> gene. VUSs are medically nonactionable findings and data show that VUSs can be detected in 41% of all patients who undergo clinical genetic testing. VUSs frustrate clinicians and patients alike. Although they cannot be used in medical decision-making, data suggest that reanalysis can result in the reclassification of a VUS over time.</p><p><strong>Diagnosis: </strong>Post-donation, the index patient had a higher than anticipated rise in serum creatinine, raising a concern for possible intrinsic kidney disease. Kidney biopsy was deemed high risk in the setting of a unilateral kidney thereby limiting possible diagnostic intervention to determine the cause of disease.</p><p><strong>Intervention: </strong>Re-evaluation of prior genetic testing results and reassessment of the previously identified VUS in <i>COL4A4</i> was performed 5-years post-donation. These analyses, along with the addition of new phenotypic data and extended pedigree data, resulted in the reclassification of the previously identified VUS to a likely pathogenic variant.</p><p><strong>Outcomes: </strong>This case demonstrates the importance of structured, periodic re-evaluation of genetic testing results. With the ever-changing landscape of genetics in medicine, the interpretation of a VUS can be dynamic and therefore warrant caution in living kidney donor evaluations. Studies have shown that about 10% of VUSs can be upgraded to a pathogenic classification after an 18- to 36-month interval. Structured re-evaluation of genomic testing results has not yet been integrated into clinical practice and poses a unique challenge in living kidney donation.</p><p><strong>Novel findings: </strong>This case report highlights the variability of the ADAS phenotype caused by pathogenic heterozygous variants in the type 4 collagen genes. It supports the nomenclature change from a benign hematuria phenotype to ADAS, particularly when additional risk factors such as proteinuria, focal segmental glomerulosclerosis or glomerular basement membrane changes on kidney biopsy are present, or as in thi","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11017705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140847947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differences in Antihypertensive Medication Prescription Profiles Between 2009 and 2021: A Retrospective Cohort Study of CARTaGENE.","authors":"Victoria Ivensky, Pitchou Zonga, Gabriel Dallaire, Louis-Charles Desbiens, Annie-Claire Nadeau-Fredette, Guy Rousseau, Rémi Goupil","doi":"10.1177/20543581241234729","DOIUrl":"https://doi.org/10.1177/20543581241234729","url":null,"abstract":"<p><strong>Background: </strong>Although blood pressure (BP) control is critical to prevent cardiovascular diseases, hypertension control rates in Canada are in decline.</p><p><strong>Objective: </strong>To assess this issue, we sought to evaluate the differences in antihypertensive medication prescription profiles in the province of Quebec between 2009 and 2021.</p><p><strong>Design: </strong>This is a retrospective cohort study.</p><p><strong>Setting: </strong>We used data from the CARTaGENE population-based cohort linked to administrative health databases.</p><p><strong>Patients: </strong>Participants with any drug claim in the 6 months prior to the end of follow-up were included.</p><p><strong>Measurements: </strong>Guideline-recommended antihypertensive drug prescription profiles were assessed at the time of enrollment (2009-2010) and end of follow-up (March 2021).</p><p><strong>Methods: </strong>Prescriptions practices from the 2 time periods were compared using Pearson's chi-square tests. A sensitivity analysis was performed by excluding participants in which antihypertensive drugs may not have been prescribed solely to treat hypertension (presence of atrial fibrillation/flutter, ischemic heart disease, heart failure, chronic kidney disease, or migraines documented prior to or during follow-up).</p><p><strong>Results: </strong>Of 8447 participants included in the study, 31.4% and 51.3% filled prescriptions for antihypertensive drugs at the beginning and end of follow-up. In both study periods, guideline-recommended monotherapy was applied in most participants with hypertension (77.9% vs 79.5%, <i>P =</i> .3), whereas optimal 2 and 3-drug combinations were used less frequently (62.0% vs 61.4%, <i>P =</i> .77, 51.9% vs 46.7%, <i>P =</i> .066, respectively). Only the use of long-acting thiazide-like diuretics (9.5% vs 27.7%, <i>P</i> < .001) and spironolactone as a fourth-line agent (8.3% vs 15.9%, <i>P =</i> .054) increased with time but nonetheless remained infrequent. Results were similar in the sensitivity analysis.</p><p><strong>Limitations: </strong>Specific indication of the prescribed antihypertensive medications and follow-up BP data was not available.</p><p><strong>Conclusions: </strong>Application of hypertension guidelines for the choice of antihypertensive drugs remains suboptimal, highlighting the need for education initiatives. This may be an important step to raise BP control rates in Canada.</p>","PeriodicalId":9426,"journal":{"name":"Canadian Journal of Kidney Health and Disease","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11005488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}