Carole Bonnet, Massimo Torreggiani, Lavinia Bianco, Frédéric Amiard, Zeyad Elsalhy, Ajla Grozdanic, Hana Grozdanic, Anastasia Vladimira Sizov, Makrem Kayel, Michaël Saulnier, Gaëlle Vayssieres, Hafedh Fessi, Nicolas Delorme, Giorgina Barbara Piccoli
{"title":"Autopsy of a Hemodialysis Machine: Potential for Recycling at the End of the Life Cycle.","authors":"Carole Bonnet, Massimo Torreggiani, Lavinia Bianco, Frédéric Amiard, Zeyad Elsalhy, Ajla Grozdanic, Hana Grozdanic, Anastasia Vladimira Sizov, Makrem Kayel, Michaël Saulnier, Gaëlle Vayssieres, Hafedh Fessi, Nicolas Delorme, Giorgina Barbara Piccoli","doi":"10.1681/ASN.0000000584","DOIUrl":"10.1681/ASN.0000000584","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":""},"PeriodicalIF":10.3,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818484","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}
Riana K Parvez, Réka L Csipán, Jing Liu, Ara Gevorgyan, Elisabeth A Rutledge, Jinjin Guo, Doh Kyung Kim, Andrew P McMahon
{"title":"Developmental and Cell Fate Analyses Support a Postnatal Origin for the Cortical Collecting System in the Mouse Kidney.","authors":"Riana K Parvez, Réka L Csipán, Jing Liu, Ara Gevorgyan, Elisabeth A Rutledge, Jinjin Guo, Doh Kyung Kim, Andrew P McMahon","doi":"10.1681/ASN.0000000579","DOIUrl":"10.1681/ASN.0000000579","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":""},"PeriodicalIF":10.3,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813541","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}
Yixin Zou, Wai Han Yiu, Sarah W Y Lok, Jingyuan Ma, Yuchen Feng, Kar Neng Lai, Sydney C W Tang
{"title":"Tubular FoxP2 and Kidney Fibrosis.","authors":"Yixin Zou, Wai Han Yiu, Sarah W Y Lok, Jingyuan Ma, Yuchen Feng, Kar Neng Lai, Sydney C W Tang","doi":"10.1681/ASN.0000000576","DOIUrl":"10.1681/ASN.0000000576","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":""},"PeriodicalIF":10.3,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801326","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}
{"title":"The Win Ratio for Composite Outcomes in Nephrology Clinical Trials.","authors":"João Pedro Ferreira, Faiez Zannad","doi":"10.1681/ASN.0000000597","DOIUrl":"10.1681/ASN.0000000597","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":""},"PeriodicalIF":10.3,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801353","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}
Lilia Cervantes, Monica Perez Jolles, Katherine Rizzolo, Ladan Golestaneh, Russell E Glasgow
{"title":"Contributions from the Implementation Science Field to Clinical Trial Design for Kidney Research: Hybrid Effectiveness-Implementation Studies.","authors":"Lilia Cervantes, Monica Perez Jolles, Katherine Rizzolo, Ladan Golestaneh, Russell E Glasgow","doi":"10.1681/ASN.0000000596","DOIUrl":"10.1681/ASN.0000000596","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":""},"PeriodicalIF":10.3,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818486","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}
Marten Junge, Nastassia Liaukouskaya, Nicole Schwarz, Carolina Pinto-Espinoza, Alessa Z Schaffrath, Björn Rissiek, Christian F Krebs, Guido Rattay, Hans-Willi Mittrücker, Nicola M Tomas, Annette Nicke, Friedrich Haag, Tobias B Huber, Catherine Meyer-Schwesinger, Friedrich Koch-Nolte, Nicola Wanner
{"title":"ATP-Gated P2X7-Ion Channel on Kidney-Resident Natural Killer T Cells and Memory T Cells in Intrarenal Inflammation.","authors":"Marten Junge, Nastassia Liaukouskaya, Nicole Schwarz, Carolina Pinto-Espinoza, Alessa Z Schaffrath, Björn Rissiek, Christian F Krebs, Guido Rattay, Hans-Willi Mittrücker, Nicola M Tomas, Annette Nicke, Friedrich Haag, Tobias B Huber, Catherine Meyer-Schwesinger, Friedrich Koch-Nolte, Nicola Wanner","doi":"10.1681/ASN.0000000564","DOIUrl":"10.1681/ASN.0000000564","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":""},"PeriodicalIF":10.3,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829173","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}
Gabriela Accetta Rojas, Charles E McCulloch, Timothy P Copeland, Adrian M Whelan, Alexandra C Bicki, Sophia Giang, Barbara A Grimes, Elaine Ku
{"title":"Pediatric Nephrology Workforce and Access of Children with Kidney Failure to Transplantation in the United States.","authors":"Gabriela Accetta Rojas, Charles E McCulloch, Timothy P Copeland, Adrian M Whelan, Alexandra C Bicki, Sophia Giang, Barbara A Grimes, Elaine Ku","doi":"10.1681/ASN.0000000586","DOIUrl":"10.1681/ASN.0000000586","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":""},"PeriodicalIF":10.3,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142789600","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}
Giuseppina Grieco, Sandro Montefusco, Edoardo Nusco, Antonella Capuozzo, Francesca Cervellini, Elena Polishchuk, Martha Bishop, Antonio Miele, Luciano D'Apolito, Claudia La Vecchia, Miriam Aurilia, Michela Schiavo, Leopoldo Staiano, Marcella Cesana, Rebecca Oberman, Anna V Lynch, Patricia Musolino, Francesco Trepiccione, Yulia Grishchuk, Diego Luis Medina
Background: Loss of function mutations in the lysosomal channel TRPML-1 cause mucolipidosis type IV (MLIV), a rare lysosomal storage disease characterized by neurological defects, progressive vision loss, and achlorhydria. Recent reports have highlighted kidney disease and kidney failure in patients with MLIV during the second to third decade of life; however, the molecular mechanisms driving kidney dysfunction remain poorly understood.
Methods: A cross-sectional review of medical records from 21 MLIV patients (ages 3-43 years) was conducted to assess kidney function impairment. Additionally, we examined the kidney phenotype of MLIV mice at various ages, along with human kidney cells silenced for TRPML-1 and primary tubular cells from wild-type and MLIV mice. Immunohistology and cell biology approaches were used to phenotype nephron structure, the endolysosomal compartment, and inflammation. Kidney function was assessed through proteomic analysis of mouse urine and in vivo renal filtration measurements.
Results: Of the 21 MLIV patients only adults were diagnosed with stage 2-3 chronic kidney disease. Laboratory abnormalities included decreased eGFR, higher levels BUN/Creatine in bloodand proteinuria. In MLIV mice, we observed significant alterations in endolysosomal morphology, function, and impaired autophagy in proximal and distal tubules. This led to the accumulation of megalin (LRP2) in the subapical region of proximal tubular cells, indicating a block in apical receptor-mediated endocytosis. In vivo and in vitro experiments confirmed reduced fluid-phase endocytosis and impaired uptake of ligands, including β-lactoglobulin, transferrin, and albumin in MLIV proximal tubular cells. Urine analysis revealed tubular proteinuria and enzymuria in mice with MLIV. Additionally, early-stage disease was marked by increased inflammatory markers, fibrosis, and activation of the pro-inflammatory transcription factor NF-κB, coinciding with endolysosomal defects. Importantly, AAV-mediated TRPML-1 gene delivery reversed key pathological phenotypes in Mucolipidosis type IV mice, underscoring TRPML-1's critical role in kidney function.
Conclusions: Our findings link TRPML-1 dysfunction to the development of kidney disease in MLIV, providing new insights into its pathogenesis and potential therapeutic targets.
{"title":"TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV.","authors":"Giuseppina Grieco, Sandro Montefusco, Edoardo Nusco, Antonella Capuozzo, Francesca Cervellini, Elena Polishchuk, Martha Bishop, Antonio Miele, Luciano D'Apolito, Claudia La Vecchia, Miriam Aurilia, Michela Schiavo, Leopoldo Staiano, Marcella Cesana, Rebecca Oberman, Anna V Lynch, Patricia Musolino, Francesco Trepiccione, Yulia Grishchuk, Diego Luis Medina","doi":"10.1681/ASN.0000000567","DOIUrl":"https://doi.org/10.1681/ASN.0000000567","url":null,"abstract":"<p><strong>Background: </strong>Loss of function mutations in the lysosomal channel TRPML-1 cause mucolipidosis type IV (MLIV), a rare lysosomal storage disease characterized by neurological defects, progressive vision loss, and achlorhydria. Recent reports have highlighted kidney disease and kidney failure in patients with MLIV during the second to third decade of life; however, the molecular mechanisms driving kidney dysfunction remain poorly understood.</p><p><strong>Methods: </strong>A cross-sectional review of medical records from 21 MLIV patients (ages 3-43 years) was conducted to assess kidney function impairment. Additionally, we examined the kidney phenotype of MLIV mice at various ages, along with human kidney cells silenced for TRPML-1 and primary tubular cells from wild-type and MLIV mice. Immunohistology and cell biology approaches were used to phenotype nephron structure, the endolysosomal compartment, and inflammation. Kidney function was assessed through proteomic analysis of mouse urine and in vivo renal filtration measurements.</p><p><strong>Results: </strong>Of the 21 MLIV patients only adults were diagnosed with stage 2-3 chronic kidney disease. Laboratory abnormalities included decreased eGFR, higher levels BUN/Creatine in bloodand proteinuria. In MLIV mice, we observed significant alterations in endolysosomal morphology, function, and impaired autophagy in proximal and distal tubules. This led to the accumulation of megalin (LRP2) in the subapical region of proximal tubular cells, indicating a block in apical receptor-mediated endocytosis. In vivo and in vitro experiments confirmed reduced fluid-phase endocytosis and impaired uptake of ligands, including β-lactoglobulin, transferrin, and albumin in MLIV proximal tubular cells. Urine analysis revealed tubular proteinuria and enzymuria in mice with MLIV. Additionally, early-stage disease was marked by increased inflammatory markers, fibrosis, and activation of the pro-inflammatory transcription factor NF-κB, coinciding with endolysosomal defects. Importantly, AAV-mediated TRPML-1 gene delivery reversed key pathological phenotypes in Mucolipidosis type IV mice, underscoring TRPML-1's critical role in kidney function.</p><p><strong>Conclusions: </strong>Our findings link TRPML-1 dysfunction to the development of kidney disease in MLIV, providing new insights into its pathogenesis and potential therapeutic targets.</p>","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":""},"PeriodicalIF":10.3,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770172","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}
McKenzie Zellers, Kaushal Solanki, Melissa A Kelly, Karyn M Murphy, Kyle Retterer, H Lester Kirchner, Ion Dan Bucaloiu, Bryn Moore, Tooraj Mirshahi, Alexander R Chang
{"title":"Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants.","authors":"McKenzie Zellers, Kaushal Solanki, Melissa A Kelly, Karyn M Murphy, Kyle Retterer, H Lester Kirchner, Ion Dan Bucaloiu, Bryn Moore, Tooraj Mirshahi, Alexander R Chang","doi":"10.1681/ASN.0000000580","DOIUrl":"10.1681/ASN.0000000580","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":" ","pages":""},"PeriodicalIF":10.3,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770104","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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