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}
Pub Date : 2024-10-15DOI: 10.1038/s41581-024-00894-2
Brian J. Beliveau, Shreeram Akilesh
The human genome is tightly packed into the 3D environment of the cell nucleus. Rapidly evolving and sophisticated methods of mapping 3D genome architecture have shed light on fundamental principles of genome organization and gene regulation. The genome is physically organized on different scales, from individual genes to entire chromosomes. Nuclear landmarks such as the nuclear envelope and nucleoli have important roles in compartmentalizing the genome within the nucleus. Genome activity (for example, gene transcription) is also functionally partitioned within this 3D organization. Rather than being static, the 3D organization of the genome is tightly regulated over various time scales. These dynamic changes in genome structure over time represent the fourth dimension of the genome. Innovative methods have been used to map the dynamic regulation of genome structure during important cellular processes including organism development, responses to stimuli, cell division and senescence. Furthermore, disruptions to the 4D genome have been linked to various diseases, including of the kidney. As tools and approaches to studying the 4D genome become more readily available, future studies that apply these methods to study kidney biology will provide insights into kidney function in health and disease. Here, the authors describe approaches to investigating 3D genome architecture and dynamics. They discuss the physical organization and dynamic regulation of the genome and highlight studies that have provided insights into the roles of genome structure and regulation in kidney health and disease.
{"title":"A guide to studying 3D genome structure and dynamics in the kidney","authors":"Brian J. Beliveau, Shreeram Akilesh","doi":"10.1038/s41581-024-00894-2","DOIUrl":"10.1038/s41581-024-00894-2","url":null,"abstract":"The human genome is tightly packed into the 3D environment of the cell nucleus. Rapidly evolving and sophisticated methods of mapping 3D genome architecture have shed light on fundamental principles of genome organization and gene regulation. The genome is physically organized on different scales, from individual genes to entire chromosomes. Nuclear landmarks such as the nuclear envelope and nucleoli have important roles in compartmentalizing the genome within the nucleus. Genome activity (for example, gene transcription) is also functionally partitioned within this 3D organization. Rather than being static, the 3D organization of the genome is tightly regulated over various time scales. These dynamic changes in genome structure over time represent the fourth dimension of the genome. Innovative methods have been used to map the dynamic regulation of genome structure during important cellular processes including organism development, responses to stimuli, cell division and senescence. Furthermore, disruptions to the 4D genome have been linked to various diseases, including of the kidney. As tools and approaches to studying the 4D genome become more readily available, future studies that apply these methods to study kidney biology will provide insights into kidney function in health and disease. Here, the authors describe approaches to investigating 3D genome architecture and dynamics. They discuss the physical organization and dynamic regulation of the genome and highlight studies that have provided insights into the roles of genome structure and regulation in kidney health and disease.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 2","pages":"97-114"},"PeriodicalIF":28.6,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142435976","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 : 2024-10-03DOI: 10.1038/s41581-024-00893-3
Louise C. Evans, Alex Dayton, John W. Osborn
Sympathetic efferent renal nerves have key roles in the regulation of kidney function and blood pressure. Increased renal sympathetic nerve activity is thought to contribute to hypertension by promoting renal sodium retention, renin release and renal vasoconstriction. This hypothesis led to the development of catheter-based renal denervation (RDN) for the treatment of hypertension. Two RDN devices that ablate both efferent and afferent renal nerves received FDA approval for this indication in 2023. However, in animal models, selective ablation of afferent renal nerves resulted in comparable anti-hypertensive effects to ablation of efferent and afferent renal nerves and was associated with a reduction in sympathetic nerve activity. Selective afferent RDN also improved kidney function in a chronic kidney disease model. Notably, the beneficial effects of RDN extend beyond hypertension and chronic kidney disease to other clinical conditions that are associated with elevated sympathetic nerve activity, including heart failure and arrhythmia. These findings suggest that the kidney is an interoceptive organ, as increased renal sensory nerve activity modulates sympathetic activity to other organs. Future studies are needed to translate this knowledge into novel therapies for the treatment of hypertension and other cardiorenal diseases. Here, the authors discuss the roles of renal nerves and the effects of renal denervation in hypertension, chronic kidney disease, heart failure and arrhythmias. They suggest that interruption of afferent pathways that modulate sympathetic nervous system activity are likely to underlie some of the beneficial effects of renal denervation.
{"title":"Renal nerves in physiology, pathophysiology and interoception","authors":"Louise C. Evans, Alex Dayton, John W. Osborn","doi":"10.1038/s41581-024-00893-3","DOIUrl":"10.1038/s41581-024-00893-3","url":null,"abstract":"Sympathetic efferent renal nerves have key roles in the regulation of kidney function and blood pressure. Increased renal sympathetic nerve activity is thought to contribute to hypertension by promoting renal sodium retention, renin release and renal vasoconstriction. This hypothesis led to the development of catheter-based renal denervation (RDN) for the treatment of hypertension. Two RDN devices that ablate both efferent and afferent renal nerves received FDA approval for this indication in 2023. However, in animal models, selective ablation of afferent renal nerves resulted in comparable anti-hypertensive effects to ablation of efferent and afferent renal nerves and was associated with a reduction in sympathetic nerve activity. Selective afferent RDN also improved kidney function in a chronic kidney disease model. Notably, the beneficial effects of RDN extend beyond hypertension and chronic kidney disease to other clinical conditions that are associated with elevated sympathetic nerve activity, including heart failure and arrhythmia. These findings suggest that the kidney is an interoceptive organ, as increased renal sensory nerve activity modulates sympathetic activity to other organs. Future studies are needed to translate this knowledge into novel therapies for the treatment of hypertension and other cardiorenal diseases. Here, the authors discuss the roles of renal nerves and the effects of renal denervation in hypertension, chronic kidney disease, heart failure and arrhythmias. They suggest that interruption of afferent pathways that modulate sympathetic nervous system activity are likely to underlie some of the beneficial effects of renal denervation.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 1","pages":"57-69"},"PeriodicalIF":28.6,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368964","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 : 2024-10-03DOI: 10.1038/s41581-024-00895-1
Jennifer R. Charlton, David T. Selewski, Matthew W. Harer, David J. Askenazi, Michelle C. Starr, Ronnie Guillet, on behalf of the Board of the Neonatal Kidney Collaborative
The Neonatal Kidney Collaborative is a multidisciplinary initiative that aims to improve neonatal kidney health. By uniting experts and promoting trainees from various fields, the collaborative has developed a strong foundation for research, education and advocacy efforts that will advance our understanding and treatment of kidney problems in newborns.
{"title":"Multidisciplinary collaboration to improve neonatal kidney health","authors":"Jennifer R. Charlton, David T. Selewski, Matthew W. Harer, David J. Askenazi, Michelle C. Starr, Ronnie Guillet, on behalf of the Board of the Neonatal Kidney Collaborative","doi":"10.1038/s41581-024-00895-1","DOIUrl":"10.1038/s41581-024-00895-1","url":null,"abstract":"The Neonatal Kidney Collaborative is a multidisciplinary initiative that aims to improve neonatal kidney health. By uniting experts and promoting trainees from various fields, the collaborative has developed a strong foundation for research, education and advocacy efforts that will advance our understanding and treatment of kidney problems in newborns.","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"21 1","pages":"1-2"},"PeriodicalIF":28.6,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368963","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 : 2024-09-25DOI: 10.1038/s41581-024-00896-0
Susan J. Allison
{"title":"Risk of kidney failure among patients with genetic kidney diseases","authors":"Susan J. Allison","doi":"10.1038/s41581-024-00896-0","DOIUrl":"10.1038/s41581-024-00896-0","url":null,"abstract":"","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":"20 11","pages":"705-705"},"PeriodicalIF":28.6,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142317200","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}
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