Pub Date : 2025-03-01Epub Date: 2024-12-13DOI: 10.1097/MNH.0000000000001050
Fabiano Amorim, Zachary Schlader
Purpose of review: This review examines the effects of occupational heat stress on kidney health. It focuses on the role of hyperthermia in the development of acute kidney injury (AKI) and its potential progression to chronic kidney disease of nontraditional etiology (CKDnt). We highlight the physiological mechanisms by which hyperthermia affects kidney function and discuss emerging preventive strategies.
Recent findings: Hyperthermia places the kidneys in a vulnerable state. As body temperature increases, blood flow is directed toward the skin to aid in cooling, diverting it away from internal organs like the kidneys to support blood pressure regulation. At the same time, hyperthermia and dehydration increases energetic demand to promote fluid and electrolyte conservation. Collectively, this can create a localized supply-demand mismatch, resulting in tissue hypoxia that can damage kidney tissues. These findings highlight that heat hyperthermia can lead to subclinical kidney damage, with potential long-term implications for kidney health.
Summary: Heat-induced AKI is a growing public health concern. Individuals engaged in manual labor with prolonged exposure are at risk of CKDnt. Interventions aimed to prevent hyperthermia show promise in mitigating the risk of AKI. Further research is necessary to refine these strategies and establish evidence-based guidelines for reducing heat-related kidney injuries.
{"title":"The kidney under heat stress: a vulnerable state.","authors":"Fabiano Amorim, Zachary Schlader","doi":"10.1097/MNH.0000000000001050","DOIUrl":"10.1097/MNH.0000000000001050","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review examines the effects of occupational heat stress on kidney health. It focuses on the role of hyperthermia in the development of acute kidney injury (AKI) and its potential progression to chronic kidney disease of nontraditional etiology (CKDnt). We highlight the physiological mechanisms by which hyperthermia affects kidney function and discuss emerging preventive strategies.</p><p><strong>Recent findings: </strong>Hyperthermia places the kidneys in a vulnerable state. As body temperature increases, blood flow is directed toward the skin to aid in cooling, diverting it away from internal organs like the kidneys to support blood pressure regulation. At the same time, hyperthermia and dehydration increases energetic demand to promote fluid and electrolyte conservation. Collectively, this can create a localized supply-demand mismatch, resulting in tissue hypoxia that can damage kidney tissues. These findings highlight that heat hyperthermia can lead to subclinical kidney damage, with potential long-term implications for kidney health.</p><p><strong>Summary: </strong>Heat-induced AKI is a growing public health concern. Individuals engaged in manual labor with prolonged exposure are at risk of CKDnt. Interventions aimed to prevent hyperthermia show promise in mitigating the risk of AKI. Further research is necessary to refine these strategies and establish evidence-based guidelines for reducing heat-related kidney injuries.</p>","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":" ","pages":"170-176"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142834065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2025-01-30DOI: 10.1097/MNH.0000000000001059
{"title":"Editorial introduction.","authors":"","doi":"10.1097/MNH.0000000000001059","DOIUrl":"https://doi.org/10.1097/MNH.0000000000001059","url":null,"abstract":"","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":"34 2","pages":"v"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-12-17DOI: 10.1097/MNH.0000000000001054
DeAndra Martin, Peter Brewster, Susan T Crowley
Purpose of review: Climate change has been implicated as the driver for the increasing number, intensity, duration, and consequences of catastrophic weather events. As a result of extreme weather events, climate change has also been implicated as an important mediator of adverse kidney health outcomes, not only increasing the risk for the development of acute and chronic kidney diseases, but also disrupting the delivery of critical kidney health services. In particular, the delivery of dialysis services during major emergencies remains an ongoing and increasing problem, with a recognized need for improved emergency preparedness and disaster management (EP-DM) strategies to mitigate the increased risk of morbidity and mortality associated with missed dialysis treatment.
Recent findings: There are increasing reports detailing the challenges of kidney dialysis care in times of crisis, to include those resulting from both man-made and natural disasters. Optimized management of the high-risk vulnerable dialysis patient population must include both facility-facing comprehensive continuity of operations and emergency response plans, and ongoing patient-facing emergency preparedness education.
Summary: This review discusses the adverse impact of climate change-related natural disasters on the delivery of dialysis services, and the evolving EP-DM strategies developed and implemented by the Veterans Health Administration (VA) to optimize the care and well being of the vulnerable end stage kidney disease (ESKD) patient population.
{"title":"Preparing for stormy weather: building VA health system resilience for dialysis emergency preparedness in the era of climate change.","authors":"DeAndra Martin, Peter Brewster, Susan T Crowley","doi":"10.1097/MNH.0000000000001054","DOIUrl":"10.1097/MNH.0000000000001054","url":null,"abstract":"<p><strong>Purpose of review: </strong>Climate change has been implicated as the driver for the increasing number, intensity, duration, and consequences of catastrophic weather events. As a result of extreme weather events, climate change has also been implicated as an important mediator of adverse kidney health outcomes, not only increasing the risk for the development of acute and chronic kidney diseases, but also disrupting the delivery of critical kidney health services. In particular, the delivery of dialysis services during major emergencies remains an ongoing and increasing problem, with a recognized need for improved emergency preparedness and disaster management (EP-DM) strategies to mitigate the increased risk of morbidity and mortality associated with missed dialysis treatment.</p><p><strong>Recent findings: </strong>There are increasing reports detailing the challenges of kidney dialysis care in times of crisis, to include those resulting from both man-made and natural disasters. Optimized management of the high-risk vulnerable dialysis patient population must include both facility-facing comprehensive continuity of operations and emergency response plans, and ongoing patient-facing emergency preparedness education.</p><p><strong>Summary: </strong>This review discusses the adverse impact of climate change-related natural disasters on the delivery of dialysis services, and the evolving EP-DM strategies developed and implemented by the Veterans Health Administration (VA) to optimize the care and well being of the vulnerable end stage kidney disease (ESKD) patient population.</p>","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":" ","pages":"156-163"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-12-17DOI: 10.1097/MNH.0000000000001058
Suzanne Watnick
Purpose of review: The climate crisis poses significant challenges across various sectors, including healthcare, where resource consumption often exacerbates environmental issues. This review addresses concerns over current levels of water use for dialysis treatment, a critical procedure for patients with kidney failure. Despite its life-saving importance, the dialysis process consumes large quantities of water, contributing to water scarcity and increased carbon emissions associated with water treatment and distribution.
Recent findings: Through a comprehensive analysis of current practices, we identify inefficiencies and propose sustainable alternatives aimed at reducing water usage in dialysis.
Summary: Findings indicate that optimizing treatment protocols and considering innovative technologies can significantly mitigate the environmental impact while maintaining patient care standards. This review underscores the urgent need for the healthcare sector to adopt sustainable practices in response to the climate crisis.
{"title":"Use of water in dialysis and its impact on the environment.","authors":"Suzanne Watnick","doi":"10.1097/MNH.0000000000001058","DOIUrl":"10.1097/MNH.0000000000001058","url":null,"abstract":"<p><strong>Purpose of review: </strong>The climate crisis poses significant challenges across various sectors, including healthcare, where resource consumption often exacerbates environmental issues. This review addresses concerns over current levels of water use for dialysis treatment, a critical procedure for patients with kidney failure. Despite its life-saving importance, the dialysis process consumes large quantities of water, contributing to water scarcity and increased carbon emissions associated with water treatment and distribution.</p><p><strong>Recent findings: </strong>Through a comprehensive analysis of current practices, we identify inefficiencies and propose sustainable alternatives aimed at reducing water usage in dialysis.</p><p><strong>Summary: </strong>Findings indicate that optimizing treatment protocols and considering innovative technologies can significantly mitigate the environmental impact while maintaining patient care standards. This review underscores the urgent need for the healthcare sector to adopt sustainable practices in response to the climate crisis.</p>","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":" ","pages":"151-155"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-11-13DOI: 10.1097/MNH.0000000000001047
Daniel Ribeiro Rocha, Ana Cristina Carvalho Matos, Ita Pfeferman Heilberg
Purpose of review: This review highlights the latest findings regarding hypocitraturia in autosomal dominant polycystic kidney disease (ADPKD), from both experimental and clinical studies, exploring the underlying pathophysiology and potential therapeutic approach.
Recent findings: Experimental studies have shown that the lodging of microcrystals in the tubules can trigger cyst formation and growth in polycystic kidney disease (PKD). ADPKD patients are prone to developing hypocitraturia in early stages, which could predispose to calcium microcrystal formation. Low urinary citrate excretion has been associated with a more rapid decline in eGFR and poorer renal survival in ADPKD patients. Animal studies employing citrate supplementation have shown promising effects on preserving the decline in estimated glomerular filtration rate (eGFR) and cyst growth.
Summary: Current knowledge suggests that urinary citrate could be incorporated into existing prognostic markers for disease progression and potential adjuvant therapy in ADPKD, but further clinical studies to support such hypothesis must be undertaken.
{"title":"Citrate in autosomal dominant polycystic kidney disease: biomarker or therapeutic agent?","authors":"Daniel Ribeiro Rocha, Ana Cristina Carvalho Matos, Ita Pfeferman Heilberg","doi":"10.1097/MNH.0000000000001047","DOIUrl":"https://doi.org/10.1097/MNH.0000000000001047","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review highlights the latest findings regarding hypocitraturia in autosomal dominant polycystic kidney disease (ADPKD), from both experimental and clinical studies, exploring the underlying pathophysiology and potential therapeutic approach.</p><p><strong>Recent findings: </strong>Experimental studies have shown that the lodging of microcrystals in the tubules can trigger cyst formation and growth in polycystic kidney disease (PKD). ADPKD patients are prone to developing hypocitraturia in early stages, which could predispose to calcium microcrystal formation. Low urinary citrate excretion has been associated with a more rapid decline in eGFR and poorer renal survival in ADPKD patients. Animal studies employing citrate supplementation have shown promising effects on preserving the decline in estimated glomerular filtration rate (eGFR) and cyst growth.</p><p><strong>Summary: </strong>Current knowledge suggests that urinary citrate could be incorporated into existing prognostic markers for disease progression and potential adjuvant therapy in ADPKD, but further clinical studies to support such hypothesis must be undertaken.</p>","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":"34 2","pages":"138-142"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-11-21DOI: 10.1097/MNH.0000000000001048
Byoungjun Kim, Rania Kanchi, Andrea R Titus, Morgan E Grams, Mara A McAdams-DeMarco, Lorna E Thorpe
Purpose of review: Despite emerging studies on neighborhood-level risk factors for chronic kidney disease (CKD), our understanding of the causal links between neighborhood characteristics and CKD is limited. In particular, there is a gap in identifying modifiable neighborhood factors, such as the built environment, in preventing CKD, that could be targets for feasible place-based interventions.
Recent findings: Most published studies on neighborhood factors and CKD have focused on a single social attribute, such as neighborhood disadvantage, while research on the role of the built environment is more nascent. Early studies on this topic have yielded inconsistent results, particularly regarding whether food deserts are an environmental risk factor for CKD onset. International studies have shown that walkable neighborhoods - characterized by features such as urban design, park access, and green spaces - can be protective against both the onset and progression of CKD. However, these findings are inconclusive and understudied in the context of United States, where neighborhood environments differ from those in other countries.
Summary: Future research on modifiable neighborhood factors and CKD using advanced study designs and population-representative datasets can yield stronger evidence on potential causal associations and suggest feasible place-based interventions as strategies for preventing CKD. As an example, we demonstrated the potential of electronic health record-based studies to advance research in this area.
{"title":"Built environment and chronic kidney disease: current state and future directions.","authors":"Byoungjun Kim, Rania Kanchi, Andrea R Titus, Morgan E Grams, Mara A McAdams-DeMarco, Lorna E Thorpe","doi":"10.1097/MNH.0000000000001048","DOIUrl":"10.1097/MNH.0000000000001048","url":null,"abstract":"<p><strong>Purpose of review: </strong>Despite emerging studies on neighborhood-level risk factors for chronic kidney disease (CKD), our understanding of the causal links between neighborhood characteristics and CKD is limited. In particular, there is a gap in identifying modifiable neighborhood factors, such as the built environment, in preventing CKD, that could be targets for feasible place-based interventions.</p><p><strong>Recent findings: </strong>Most published studies on neighborhood factors and CKD have focused on a single social attribute, such as neighborhood disadvantage, while research on the role of the built environment is more nascent. Early studies on this topic have yielded inconsistent results, particularly regarding whether food deserts are an environmental risk factor for CKD onset. International studies have shown that walkable neighborhoods - characterized by features such as urban design, park access, and green spaces - can be protective against both the onset and progression of CKD. However, these findings are inconclusive and understudied in the context of United States, where neighborhood environments differ from those in other countries.</p><p><strong>Summary: </strong>Future research on modifiable neighborhood factors and CKD using advanced study designs and population-representative datasets can yield stronger evidence on potential causal associations and suggest feasible place-based interventions as strategies for preventing CKD. As an example, we demonstrated the potential of electronic health record-based studies to advance research in this area.</p>","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":" ","pages":"143-150"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11779582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-12-06DOI: 10.1097/MNH.0000000000001049
Manal E Alotaibi, Sam Kant
Purpose of review: This article explores the benefits and challenges of dual organ transplants.
Recent findings: Simultaneous liver-kidney transplant has become a valuable option for patients with both liver and kidney failure, especially since the introduction of clearer eligibility guidelines in 2017. When done for the appropriate candidate, it can significantly improve survival and quality of life. Similarly, simultaneous pancreas-kidney transplantation provides significant advantages for patients with diabetes-related kidney failure by addressing both glycemic control and kidney function, with significant improvement in diabetes associated complications and survival.
Summary: While these procedures are complex, they offer promising solutions for managing difficult multiorgan conditions. Ongoing research and personalized patient care will be key to maximizing their benefits.
{"title":"Dual organ transplantation: Pancreas and Liver in the kidney axis.","authors":"Manal E Alotaibi, Sam Kant","doi":"10.1097/MNH.0000000000001049","DOIUrl":"10.1097/MNH.0000000000001049","url":null,"abstract":"<p><strong>Purpose of review: </strong>This article explores the benefits and challenges of dual organ transplants.</p><p><strong>Recent findings: </strong>Simultaneous liver-kidney transplant has become a valuable option for patients with both liver and kidney failure, especially since the introduction of clearer eligibility guidelines in 2017. When done for the appropriate candidate, it can significantly improve survival and quality of life. Similarly, simultaneous pancreas-kidney transplantation provides significant advantages for patients with diabetes-related kidney failure by addressing both glycemic control and kidney function, with significant improvement in diabetes associated complications and survival.</p><p><strong>Summary: </strong>While these procedures are complex, they offer promising solutions for managing difficult multiorgan conditions. Ongoing research and personalized patient care will be key to maximizing their benefits.</p>","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":" ","pages":"164-169"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-12-13DOI: 10.1097/MNH.0000000000001056
Jeffrey D Wallach, Juan A Medaura, Leonard Stern
Purpose of review: The rapid rise in incidence and prevalence of end-stage kidney disease (ESKD) over the past 50 years was matched by a drop-off in use of home dialysis and a proliferation of in-center hemodialysis across the United States. There is renewed interest in improving access to home dialysis modalities for patients with ESKD. The aim of this review is to update kidney care providers with clinical outcome data and new guidelines that promote patient-centered choices, and to address barriers to home dialysis uptake and continued use.
Recent findings: Recent literature, including changing practice guidelines for prescribing home dialysis and examining the goals of treatment from the patient and caregiver perspectives will be reviewed. We will examine the impact of newer care models to promote home dialysis for incident ESKD patients. Assisted home dialysis, home dialysis in a nursing home and the impact of new payment models rewarding home dialysis providers will be examined.
Summary: This concise review of recent pertinent literature should give the dialysis provider confidence in advising their patients on the benefits of home dialysis, a glimpse into the future landscape for home dialysis, and hopefully transform kidney care providers into unbiased patient advocates.
{"title":"Home dialysis: there's no place like home.","authors":"Jeffrey D Wallach, Juan A Medaura, Leonard Stern","doi":"10.1097/MNH.0000000000001056","DOIUrl":"10.1097/MNH.0000000000001056","url":null,"abstract":"<p><strong>Purpose of review: </strong>The rapid rise in incidence and prevalence of end-stage kidney disease (ESKD) over the past 50 years was matched by a drop-off in use of home dialysis and a proliferation of in-center hemodialysis across the United States. There is renewed interest in improving access to home dialysis modalities for patients with ESKD. The aim of this review is to update kidney care providers with clinical outcome data and new guidelines that promote patient-centered choices, and to address barriers to home dialysis uptake and continued use.</p><p><strong>Recent findings: </strong>Recent literature, including changing practice guidelines for prescribing home dialysis and examining the goals of treatment from the patient and caregiver perspectives will be reviewed. We will examine the impact of newer care models to promote home dialysis for incident ESKD patients. Assisted home dialysis, home dialysis in a nursing home and the impact of new payment models rewarding home dialysis providers will be examined.</p><p><strong>Summary: </strong>This concise review of recent pertinent literature should give the dialysis provider confidence in advising their patients on the benefits of home dialysis, a glimpse into the future landscape for home dialysis, and hopefully transform kidney care providers into unbiased patient advocates.</p>","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":" ","pages":"131-137"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142834064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2024-12-06DOI: 10.1097/MNH.0000000000001057
Giorgia Mandrile, Barbara Cellini, Pietro Manuel Ferraro
Purpose of review: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of hepatic glyoxylate metabolism leading to nephrolithiasis and kidney failure. PH1 is caused by mutations on the AGXT gene encoding alanine:glyoxylate aminotransferase (AGT). The AGXT gene has two haplotypes, the major (Ma) and the minor (mi) alleles. This review summarizes the role of the minor allele on the molecular pathogenesis and the clinical manifestations of PH1.
Recent findings: PH1 shows high genetic variability and significant interindividual variability. Although the minor haplotype is not pathogenic on its own, it may be crucial for the pathogenicity of some mutations or amplify the effect of others, thus affecting both symptoms and responsiveness to Vitamin B6, the only pharmacological treatment effective in a selected group of PH1 patients.
Summary: In the last years, new drugs based on RNA-interference are available for patients nonresponsive to Vitamin B6, but no specific biomarkers are available to predict disease course and severity. Therefore, a clinical assessment of PH1 taking into account molecular analysis of the mutations and the allelic background and the possible synergism among polymorphic and pathogenic variants should be encouraged to promote approaches of personalized medicine that improve the management of available resources.
{"title":"Effect of the allelic background on the phenotype of primary hyperoxaluria type I.","authors":"Giorgia Mandrile, Barbara Cellini, Pietro Manuel Ferraro","doi":"10.1097/MNH.0000000000001057","DOIUrl":"10.1097/MNH.0000000000001057","url":null,"abstract":"<p><strong>Purpose of review: </strong>Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of hepatic glyoxylate metabolism leading to nephrolithiasis and kidney failure. PH1 is caused by mutations on the AGXT gene encoding alanine:glyoxylate aminotransferase (AGT). The AGXT gene has two haplotypes, the major (Ma) and the minor (mi) alleles. This review summarizes the role of the minor allele on the molecular pathogenesis and the clinical manifestations of PH1.</p><p><strong>Recent findings: </strong>PH1 shows high genetic variability and significant interindividual variability. Although the minor haplotype is not pathogenic on its own, it may be crucial for the pathogenicity of some mutations or amplify the effect of others, thus affecting both symptoms and responsiveness to Vitamin B6, the only pharmacological treatment effective in a selected group of PH1 patients.</p><p><strong>Summary: </strong>In the last years, new drugs based on RNA-interference are available for patients nonresponsive to Vitamin B6, but no specific biomarkers are available to predict disease course and severity. Therefore, a clinical assessment of PH1 taking into account molecular analysis of the mutations and the allelic background and the possible synergism among polymorphic and pathogenic variants should be encouraged to promote approaches of personalized medicine that improve the management of available resources.</p>","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":" ","pages":"177-183"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2025-01-30DOI: 10.1097/MNH.0000000000001046
David S Goldfarb
{"title":"The hemodialysis unit: the place where everybody knows your name.","authors":"David S Goldfarb","doi":"10.1097/MNH.0000000000001046","DOIUrl":"https://doi.org/10.1097/MNH.0000000000001046","url":null,"abstract":"","PeriodicalId":10960,"journal":{"name":"Current Opinion in Nephrology and Hypertension","volume":"34 2","pages":"129-130"},"PeriodicalIF":2.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}