Pub Date : 2024-11-26DOI: 10.1038/s41581-024-00912-3
Susan J. Allison
{"title":"Consequence of microvascular inflammation in transplantation","authors":"Susan J. Allison","doi":"10.1038/s41581-024-00912-3","DOIUrl":"10.1038/s41581-024-00912-3","url":null,"abstract":"","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 1","pages":"7-7"},"PeriodicalIF":28.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142713206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-26DOI: 10.1038/s41581-024-00913-2
Susan J. Allison
{"title":"Contribution of APOL1 variants to CKD risk in West Africans","authors":"Susan J. Allison","doi":"10.1038/s41581-024-00913-2","DOIUrl":"10.1038/s41581-024-00913-2","url":null,"abstract":"","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 1","pages":"7-7"},"PeriodicalIF":28.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142713252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-19DOI: 10.1038/s41581-024-00909-y
Annalijn I. Conklin, Sofia B. Ahmed
Women living with kidney disease are exposed to several sex and gender gaps in the clinical practice of standard hemodialysis treatment. Drawing on lived experience, we offer opportunities for improvement and call on nephrology clinicians and researchers to advance gender equity and improve health outcomes for women.
{"title":"Advancing gender equity to improve kidney care for women: a patient perspective","authors":"Annalijn I. Conklin, Sofia B. Ahmed","doi":"10.1038/s41581-024-00909-y","DOIUrl":"10.1038/s41581-024-00909-y","url":null,"abstract":"Women living with kidney disease are exposed to several sex and gender gaps in the clinical practice of standard hemodialysis treatment. Drawing on lived experience, we offer opportunities for improvement and call on nephrology clinicians and researchers to advance gender equity and improve health outcomes for women.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 1","pages":"3-4"},"PeriodicalIF":28.6,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142670790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-15DOI: 10.1038/s41581-024-00902-5
Vanessa De Gregorio, Moumita Barua, Rachel Lennon
Highly abundant in mammals, collagens define the organization of tissues and participate in cell signalling. Most of the 28 vertebrate collagens, with the exception of collagens VI, VII, XXVI and XXVIII, can be categorized into five subgroups: fibrillar collagens, network-forming collagens, fibril-associated collagens with interrupted triple helices, membrane-associated collagens with interrupted triple helices and multiple triple-helix domains with interruptions. Collagen peptides are synthesized from the ribosome and enter the rough endoplasmic reticulum, where they undergo numerous post-translational modifications. The collagen chains form triple helices that can be secreted to form a diverse array of supramolecular structures in the extracellular matrix. Collagens are ubiquitously expressed and have been linked to a broad spectrum of disorders, including genetic disorders with kidney phenotypes. They also have an important role in kidney fibrosis and mass spectrometry-based proteomic studies have improved understanding of the composition of fibrosis in kidney disease. A wide range of therapeutics are in development for collagen and kidney disorders, including genetic approaches, chaperone therapies, protein degradation strategies and anti-fibrotic therapies. Improved understanding of collagens and their role in disease is needed to facilitate the development of more specific treatments for collagen and kidney disorders. Collagens are ubiquitously expressed and have been linked to a broad spectrum of disorders. Here, the authors discuss collagen subtypes and provide a summary of collagen disorders, fibrotic process and therapies, with an emphasis on kidney diseases.
{"title":"Collagen formation, function and role in kidney disease","authors":"Vanessa De Gregorio, Moumita Barua, Rachel Lennon","doi":"10.1038/s41581-024-00902-5","DOIUrl":"10.1038/s41581-024-00902-5","url":null,"abstract":"Highly abundant in mammals, collagens define the organization of tissues and participate in cell signalling. Most of the 28 vertebrate collagens, with the exception of collagens VI, VII, XXVI and XXVIII, can be categorized into five subgroups: fibrillar collagens, network-forming collagens, fibril-associated collagens with interrupted triple helices, membrane-associated collagens with interrupted triple helices and multiple triple-helix domains with interruptions. Collagen peptides are synthesized from the ribosome and enter the rough endoplasmic reticulum, where they undergo numerous post-translational modifications. The collagen chains form triple helices that can be secreted to form a diverse array of supramolecular structures in the extracellular matrix. Collagens are ubiquitously expressed and have been linked to a broad spectrum of disorders, including genetic disorders with kidney phenotypes. They also have an important role in kidney fibrosis and mass spectrometry-based proteomic studies have improved understanding of the composition of fibrosis in kidney disease. A wide range of therapeutics are in development for collagen and kidney disorders, including genetic approaches, chaperone therapies, protein degradation strategies and anti-fibrotic therapies. Improved understanding of collagens and their role in disease is needed to facilitate the development of more specific treatments for collagen and kidney disorders. Collagens are ubiquitously expressed and have been linked to a broad spectrum of disorders. Here, the authors discuss collagen subtypes and provide a summary of collagen disorders, fibrotic process and therapies, with an emphasis on kidney diseases.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 3","pages":"200-215"},"PeriodicalIF":28.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-05DOI: 10.1038/s41581-024-00901-6
Priscilla A. Smith, Ippokratis Sarris, Katherine Clark, Kate Wiles, Kate Bramham
Understanding the relationship between reproductive health and kidney function is important to provide holistic care for people living with kidney disease. Chronic kidney disease (CKD) has negative impacts on both male and female fertility owing to factors including inflammation, hormonal dysregulation, reduced ovarian reserve, reduced sperm quality and sexual dysfunction. However, pregnancy is achievable for most cisgender women with kidney disease, including kidney transplant recipients and patients on dialysis. CKD in pregnancy is associated with health risks to the mother and child, including increased risk of progression of kidney disease, hypertensive complications of pregnancy, and neonatal complications including fetal growth restriction, preterm birth and stillbirth. However, with appropriate pre-pregnancy counselling, fertility assessment and support, health optimization, and evidence-based antenatal care, the majority of patients will achieve a good outcome. Medication safety should be reviewed before and during pregnancy and lactation, weighing the risk of disease flare against potential adverse effects on the offspring. Important areas for further research include the optimal timing of delivery and the short- and long-term cardiovascular and renal impacts of pregnancy in patients with CKD, as well as long-term kidney and cardiovascular outcomes in their offspring. The authors review the effect of chronic kidney disease (CKD) on female and male fertility and pregnancy outcomes. They also discuss the risk of pregnancy-associated CKD progression and the potential effect of maternal or paternal CKD on the offspring.
{"title":"Kidney disease and reproductive health","authors":"Priscilla A. Smith, Ippokratis Sarris, Katherine Clark, Kate Wiles, Kate Bramham","doi":"10.1038/s41581-024-00901-6","DOIUrl":"10.1038/s41581-024-00901-6","url":null,"abstract":"Understanding the relationship between reproductive health and kidney function is important to provide holistic care for people living with kidney disease. Chronic kidney disease (CKD) has negative impacts on both male and female fertility owing to factors including inflammation, hormonal dysregulation, reduced ovarian reserve, reduced sperm quality and sexual dysfunction. However, pregnancy is achievable for most cisgender women with kidney disease, including kidney transplant recipients and patients on dialysis. CKD in pregnancy is associated with health risks to the mother and child, including increased risk of progression of kidney disease, hypertensive complications of pregnancy, and neonatal complications including fetal growth restriction, preterm birth and stillbirth. However, with appropriate pre-pregnancy counselling, fertility assessment and support, health optimization, and evidence-based antenatal care, the majority of patients will achieve a good outcome. Medication safety should be reviewed before and during pregnancy and lactation, weighing the risk of disease flare against potential adverse effects on the offspring. Important areas for further research include the optimal timing of delivery and the short- and long-term cardiovascular and renal impacts of pregnancy in patients with CKD, as well as long-term kidney and cardiovascular outcomes in their offspring. The authors review the effect of chronic kidney disease (CKD) on female and male fertility and pregnancy outcomes. They also discuss the risk of pregnancy-associated CKD progression and the potential effect of maternal or paternal CKD on the offspring.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 2","pages":"127-143"},"PeriodicalIF":28.6,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142580703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-30DOI: 10.1038/s41581-024-00905-2
Susan J. Allison
{"title":"ECM remodelling by ADAMTS12 in fibrosis","authors":"Susan J. Allison","doi":"10.1038/s41581-024-00905-2","DOIUrl":"10.1038/s41581-024-00905-2","url":null,"abstract":"","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"20 12","pages":"770-770"},"PeriodicalIF":28.6,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142541631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-23DOI: 10.1038/s41581-024-00900-7
Zornitza Stark, Alicia B. Byrne, Matthew G. Sampson, Rachel Lennon, Andrew J. Mallett
The use of next-generation sequencing technologies such as exome and genome sequencing in research and clinical care has transformed our understanding of the molecular architecture of genetic kidney diseases. Although the capability to identify and rigorously assess genetic variants and their relationship to disease has advanced considerably in the past decade, the curation of clinically relevant relationships between genes and specific phenotypes has received less attention, despite it underpinning accurate interpretation of genomic tests. Here, we discuss the need to accurately define gene–disease relationships in nephrology and provide a framework for appraising genetic and experimental evidence critically. We describe existing international programmes that provide expert curation of gene–disease relationships and discuss sources of discrepancy as well as efforts at harmonization. Further, we highlight the need for alignment of disease and phenotype terminology to ensure robust and reproducible curation of knowledge. These collective efforts to support evidence-based translation of genomic sequencing into practice across clinical, diagnostic and research settings are crucial for delivering the promise of precision medicine in nephrology, providing more patients with timely diagnoses, accurate prognostic information and access to targeted treatments. The catalogue of genetic factors that have been implicated in kidney disease continues to grow. In this guide to gene–disease relationships, the authors discuss the crucial process whereby genetic and experimental data are critically evaluated to determine whether a genetic variant has a role in kidney disease, which can affect patient diagnosis, prognosis and management.
{"title":"A guide to gene–disease relationships in nephrology","authors":"Zornitza Stark, Alicia B. Byrne, Matthew G. Sampson, Rachel Lennon, Andrew J. Mallett","doi":"10.1038/s41581-024-00900-7","DOIUrl":"10.1038/s41581-024-00900-7","url":null,"abstract":"The use of next-generation sequencing technologies such as exome and genome sequencing in research and clinical care has transformed our understanding of the molecular architecture of genetic kidney diseases. Although the capability to identify and rigorously assess genetic variants and their relationship to disease has advanced considerably in the past decade, the curation of clinically relevant relationships between genes and specific phenotypes has received less attention, despite it underpinning accurate interpretation of genomic tests. Here, we discuss the need to accurately define gene–disease relationships in nephrology and provide a framework for appraising genetic and experimental evidence critically. We describe existing international programmes that provide expert curation of gene–disease relationships and discuss sources of discrepancy as well as efforts at harmonization. Further, we highlight the need for alignment of disease and phenotype terminology to ensure robust and reproducible curation of knowledge. These collective efforts to support evidence-based translation of genomic sequencing into practice across clinical, diagnostic and research settings are crucial for delivering the promise of precision medicine in nephrology, providing more patients with timely diagnoses, accurate prognostic information and access to targeted treatments. The catalogue of genetic factors that have been implicated in kidney disease continues to grow. In this guide to gene–disease relationships, the authors discuss the crucial process whereby genetic and experimental data are critically evaluated to determine whether a genetic variant has a role in kidney disease, which can affect patient diagnosis, prognosis and management.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 2","pages":"115-126"},"PeriodicalIF":28.6,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142487836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-22DOI: 10.1038/s41581-024-00897-z
Elena Levtchenko, Gema Ariceta, Olga Arguedas Flores, Daniel G. Bichet, Detlef Bockenhauer, Francesco Emma, Ewout J. Hoorn, Linda Koster-Kamphuis, Tom Nijenhuis, Francesco Trepiccione, Rosa Vargas-Poussou, Stephen B. Walsh, Nine V.A.M. Knoers
Congenital nephrogenic diabetes insipidus (NDI; also known as arginine vasopressin resistance) is a rare inherited disorder of water homeostasis, caused by insensitivity of the distal nephron to arginine vasopressin. Consequently, the kidney loses its ability to concentrate urine, which leads to polyuria, polydipsia and the risk of hypertonic dehydration. The diagnosis and management of NDI are very challenging and require an integrated, multidisciplinary approach. Here, we present 36 recommendations for diagnosis, treatment and follow-up in both children and adults, as well as emergency management, genetic counselling and family planning, for patients with NDI. These recommendations were formulated and graded by an international group of experts in NDI from paediatric and adult nephrology, urology and clinical genetics from the European Rare Kidney Disease Reference Network and the European Society of Paediatric Nephrology, as well as patient advocates, and were validated by a voting panel in a Delphi process. The goal of these recommendations is to provide guidance to health care professionals who care for patients with NDI and to patients and their families. In addition, we emphasize the need for further research on different aspects of this potentially life-threatening disorder to support the development of evidence-based guidelines in the future. Congenital nephrogenic diabetes insipidus is a rare but potentially life-threatening condition. This Consensus Statement provides clinical practice recommendations developed by the European Reference Network on Rare Kidney Diseases, the European Society for Paediatric Nephrology and patient advocates to support clinicians in the diagnosis, treatment and genetic counselling of children and adults with nephrogenic diabetes insipidus.
先天性肾源性糖尿病（NDI，又称精氨酸加压素抵抗）是一种罕见的遗传性水平衡失调症，由远端肾小球对精氨酸加压素不敏感引起。因此，肾脏失去了浓缩尿液的能力，导致多尿、多饮和高渗性脱水的风险。NDI 的诊断和管理非常具有挑战性，需要多学科综合方法。在此，我们针对儿童和成人 NDI 患者的诊断、治疗和随访以及应急管理、遗传咨询和计划生育提出了 36 项建议。这些建议由来自欧洲罕见肾脏病参考网络和欧洲儿科肾脏病学会的儿科和成人肾脏病学、泌尿学和临床遗传学领域的 NDI 国际专家组以及患者权益倡导者共同制定和分级，并通过德尔菲程序由投票小组进行验证。这些建议旨在为护理 NDI 患者的医护人员以及患者及其家属提供指导。此外，我们还强调有必要对这种可能危及生命的疾病的不同方面进行进一步研究，以支持未来循证指南的制定。
{"title":"International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)","authors":"Elena Levtchenko, Gema Ariceta, Olga Arguedas Flores, Daniel G. Bichet, Detlef Bockenhauer, Francesco Emma, Ewout J. Hoorn, Linda Koster-Kamphuis, Tom Nijenhuis, Francesco Trepiccione, Rosa Vargas-Poussou, Stephen B. Walsh, Nine V.A.M. Knoers","doi":"10.1038/s41581-024-00897-z","DOIUrl":"10.1038/s41581-024-00897-z","url":null,"abstract":"Congenital nephrogenic diabetes insipidus (NDI; also known as arginine vasopressin resistance) is a rare inherited disorder of water homeostasis, caused by insensitivity of the distal nephron to arginine vasopressin. Consequently, the kidney loses its ability to concentrate urine, which leads to polyuria, polydipsia and the risk of hypertonic dehydration. The diagnosis and management of NDI are very challenging and require an integrated, multidisciplinary approach. Here, we present 36 recommendations for diagnosis, treatment and follow-up in both children and adults, as well as emergency management, genetic counselling and family planning, for patients with NDI. These recommendations were formulated and graded by an international group of experts in NDI from paediatric and adult nephrology, urology and clinical genetics from the European Rare Kidney Disease Reference Network and the European Society of Paediatric Nephrology, as well as patient advocates, and were validated by a voting panel in a Delphi process. The goal of these recommendations is to provide guidance to health care professionals who care for patients with NDI and to patients and their families. In addition, we emphasize the need for further research on different aspects of this potentially life-threatening disorder to support the development of evidence-based guidelines in the future. Congenital nephrogenic diabetes insipidus is a rare but potentially life-threatening condition. This Consensus Statement provides clinical practice recommendations developed by the European Reference Network on Rare Kidney Diseases, the European Society for Paediatric Nephrology and patient advocates to support clinicians in the diagnosis, treatment and genetic counselling of children and adults with nephrogenic diabetes insipidus.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 2","pages":"83-96"},"PeriodicalIF":28.6,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41581-024-00897-z.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142452645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-22DOI: 10.1038/s41581-024-00903-4
Monica Wang
{"title":"Bacteria caught in neutrophil and UMOD traps in urine","authors":"Monica Wang","doi":"10.1038/s41581-024-00903-4","DOIUrl":"10.1038/s41581-024-00903-4","url":null,"abstract":"","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"20 12","pages":"770-770"},"PeriodicalIF":28.6,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142486852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：