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1. Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases

Author

Wilke, Matheus V. M. B., Klee, Eric W., Dhamija, Radhika, Fervenza, Fernando C., Thomas, Brittany, Leung, Nelson, Hogan, Marie C., Hager, Megan M., Kolbert, Kayla J., Kemppainen, Jennifer L., Loftus, Elle C., Leitzen, Katie M., Vitek, Carolyn R., McAllister, Tammy, Lazaridis, Konstantinos N., and Pinto e Vairo, Filippo

Published
2024
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2. Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Author

Pinto e Vairo, Filippo, Kemppainen, Jennifer L., Vitek, Carolyn R. Rohrer, Whalen, Denise A., Kolbert, Kayla J., Sikkink, Kaitlin J., Kroc, Sarah A., Kruisselbrink, Teresa, Shupe, Gabrielle F., Knudson, Alyssa K., Burke, Elizabeth M., Loftus, Elle C., Bandel, Lorelei A., Prochnow, Carri A., Mulvihill, Lindsay A., Thomas, Brittany, Gable, Dale M., Graddy, Courtney B., Garzon, Giovanna G. Moreno, Ekpoh, Idara U., Porquera, Eva M. Carmona, Fervenza, Fernando C., Hogan, Marie C., El Ters, Mireille, Warrington, Kenneth J., Davis, III, John M., Koster, Matthew J., Orandi, Amir B., Basiaga, Matthew L., Vella, Adrian, Kumar, Seema, Creo, Ana L., Lteif, Aida N., Pittock, Siobhan T., Tebben, Peter J., Abate, Ejigayehu G., Joshi, Avni Y., Ristagno, Elizabeth H., Patnaik, Mrinal S., Schimmenti, Lisa A., Dhamija, Radhika, Sabrowsky, Sonia M., Wierenga, Klaas J., Keddis, Mira T., Samadder, Niloy Jewel J., Presutti, Richard J., Robinson, Steven I., Stephens, Michael C., Roberts, Lewis R., Faubion, Jr., William A., Driscoll, Sherilyn W., Wong-Kisiel, Lily C., Selcen, Duygu, Flanagan, Eoin P., Ramanan, Vijay K., Jackson, Lauren M., Mauermann, Michelle L., Ortega, Victor E., Anderson, Sarah A., Aoudia, Stacy L., Klee, Eric W., McAllister, Tammy M., and Lazaridis, Konstantinos N.

Published
2024
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4. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Author

Pinto e Vairo, Filippo, Kemppainen, Jennifer L., Vitek, Carolyn R. Rohrer, Whalen, Denise A., Kolbert, Kayla J., Sikkink, Kaitlin J., Kroc, Sarah A., Kruisselbrink, Teresa, Shupe, Gabrielle F., Knudson, Alyssa K., Burke, Elizabeth M., Loftus, Elle C., Bandel, Lorelei A., Prochnow, Carri A., Mulvihill, Lindsay A., Thomas, Brittany, Gable, Dale M., Graddy, Courtney B., Garzon, Giovanna G. Moreno, Ekpoh, Idara U., Porquera, Eva M. Carmona, Fervenza, Fernando C., Hogan, Marie C., El Ters, Mireille, Warrington, Kenneth J., Davis, III, John M., Koster, Matthew J., Orandi, Amir B., Basiaga, Matthew L., Vella, Adrian, Kumar, Seema, Creo, Ana L., Lteif, Aida N., Pittock, Siobhan T., Tebben, Peter J., Abate, Ejigayehu G., Joshi, Avni Y., Ristagno, Elizabeth H., Patnaik, Mrinal S., Schimmenti, Lisa A., Dhamija, Radhika, Sabrowsky, Sonia M., Wierenga, Klaas J., Keddis, Mira T., Samadder, Niloy Jewel J., Presutti, Richard J., Robinson, Steven I., Stephens, Michael C., Roberts, Lewis R., Faubion, Jr., William A., Driscoll, Sherilyn W., Wong-Kisiel, Lily C., Selcen, Duygu, Flanagan, Eoin P., Ramanan, Vijay K., Jackson, Lauren M., Mauermann, Michelle L., Ortega, Victor E., Anderson, Sarah A., Aoudia, Stacy L., Klee, Eric W., McAllister, Tammy M., and Lazaridis, Konstantinos N.

Published
2023
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7. A Focus Group Study of Self-Management in Patients With Glomerular Disease

Author

Carter, Simon A, Teng, Claris, Gutman, Talia, Logeman, Charlotte, Cattran, Dan, Lightstone, Liz, Bagga, Arvind, Barbour, Sean J, Barratt, Jonathan, Boletis, John, Caster, Dawn J, Coppo, Rosanna, Fervenza, Fernando C, Floege, Jürgen, Hladunewich, Michelle A, Hogan, Jonathan J, Kitching, A Richard, Lafayette, Richard A, Malvar, Ana, Radhakrishnan, Jai, Rovin, Brad H, Scholes-Robertson, Nicole, Trimarchi, Hernán, Zhang, Hong, Azukaitis, Karolis, Cho, Yeoungjee, Viecelli, Andrea K, Dunn, Louese, Harris, David, Johnson, David W, Kerr, Peter G, Laboi, Paul, Ryan, Jessica, Shen, Jenny I, Ruiz, Lorena, Wang, Angela Yee-Moon, Lee, Achilles Hoi Kan, Shun, Samuel Fung Ka, Tong, Matthew Ka-Hang, Teixeira-Pinto, Armando, Wilkie, Martin, Alexander, Stephen I, Craig, Jonathan C, Martin, Adam, and Tong, Allison

Subjects
Health Services and Systems, Health Sciences, Behavioral and Social Science, Health Services, Clinical Research, Management of diseases and conditions, 7.1 Individual care needs, Good Health and Well Being, focus groups, glomerulonephritis, personal autonomy, self-management, therapeutic alliance, Biomedical and clinical sciences, Health sciences
Abstract

IntroductionPatients with glomerular disease experience symptoms that impair their physical and mental health while managing their treatments, diet, appointments and monitoring general and specific indicators of health and their illness. We sought to describe the perspectives of patients and their care partners on self-management in glomerular disease.MethodsWe conducted 16 focus groups involving adult patients with glomerular disease (n = 101) and their care partners (n = 34) in Australia, Hong Kong, the United Kingdom, and United States. Transcripts were analyzed thematically.ResultsWe identified the following 4 themes: empowered in autonomy (gaining confidence through understanding, taking ownership of disease and treatment, learning a positive health approach); overwhelmed by compounding treatment burdens (financially undermined and depleted, demoralized by side effects and harms, frustrated by fragmented and inflexible care, fear of possible drug harms); striving for stability and normalcy (making personal sacrifices, maximizing life participation, attentiveness to bodily signs, avoiding precarious health states, integrating medicines into routines); and necessity of health-sustaining relationships (buoyed by social support, fulfilling meaningful responsibilities, sharing and normalizing experiences, seeking a trusting and respectful alliance).ConclusionPatients with glomerular disease and their care partners value their capacity for autonomy and disease ownership, stability of their health, and relationships that support self-management. Strategies directed at strengthening these factors may increase self-efficacy and improve the care and outcomes for patients with glomerular disease.

Published
2022

8. Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis Nephritis

Author

Barbour, Sean J., Coppo, Rosanna, Er, Lee, Pillebout, Evangeline, Russo, Maria Luisa, Alpers, Charles E., Fogo, Agnes B., Ferrario, Franco, Jennette, J. Charles, Roberts, Ian S.D., Cook, H. Terence, Ding, Jie, Su, Baige, Zhong, Xuhui, Fervenza, Fernando C., Zand, Ladan, Peruzzi, Licia, Lucchetti, Laura, Katafuchi, Ritsuko, Shima, Yuko, Yoshikawa, Norishige, Ichikawa, Daisuke, Suzuki, Yusuke, Murer, Luisa, Wyatt, Robert J., Park, Catherine, Nelson, Raoul D., Narus, JoAnn H., Wenderfer, Scott, Geetha, Duvuru, Daugas, Eric, Monteiro, Renato C., Nakatani, Shinya, Mastrangelo, Antonio, Nuutinen, Matti, Koskela, Mikael, Weber, Lutz T., Hackl, Agnes, Pohl, Martin, Pecoraro, Carmine, Tsuboi, Nobuo, Yokoo, Takashi, Takafumi, Ito, Fujimoto, Shouichi, Conti, Giovanni, Santoro, Domenico, Materassi, Marco, Zhang, Hong, Shi, Sufang, Liu, Zhi-Hong, Tesar, Vladimir, Maixnerova, Dita, Avila-Casado, Carmen, Bajema, Ingeborg, Barreca, Antonella, Becker, Jan U., Comstock, Jessica M., Cornea, Virgilius, Eldin, Karen, Hernandez, Loren Herrera, Hou, Jean, Joh, Kensuke, Lin, Mercury, Messias, Nidia, Muda, Andrea Onetti, Pagni, Fabio, Diomedi-Camassei, Francesca, Tokola, Heikki, DʼArmiento, Maria, Seidl, Maximilian, Rosenberg, Avi, Sannier, Aurélie, Soares, Maria Fernanda, Wang, Suxia, Zeng, Caihong, and Haas, Mark

Published
2024
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12. Mayo Clinic Consensus Report on Membranous Nephropathy: Proposal for a Novel Classification

Author

Sethi, Sanjeev, Beck, Laurence H., Jr., Glassock, Richard J., Haas, Mark, De Vriese, An S., Caza, Tiffany N., Hoxha, Elion, Lambeau, Gérard, Tomas, Nicola M., Madden, Benjamin, Debiec, Hanna, D’Agati, Vivette D., Alexander, Mariam P., Amer, Hatem, Appel, Gerald B., Barbour, Sean J., Caravaca-Fontan, Fernando, Cattran, Daniel C., Casal Moura, Marta, D’Avila, Domingos O., Eick, Renato G., Garovic, Vesna D., Greene, Eddie L., Herrera Hernandez, Loren P., Jennette, J. Charles, Lieske, John C., Markowitz, Glen S., Nath, Karl A., Nasr, Samih H., Nast, Cynthia C., Pani, Antonello, Praga, Manuel, Remuzzi, Giuseppe, Rennke, Helmut G., Ruggenenti, Piero, Roccatello, Dario, Soler, Maria Jose, Specks, Ulrich, Stahl, Rolf A.K., Singh, Raman Deep, Theis, Jason D., Velosa, Jorge A., Wetzels, Jack F.M., Winearls, Christopher G., Yandian, Federico, Zand, Ladan, Ronco, Pierre, and Fervenza, Fernando C.

Published
2023
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19. Precision nephrology identified tumor necrosis factor activation variability in minimal change disease and focal segmental glomerulosclerosis

Author

Mariani, Laura H., Eddy, Sean, AlAkwaa, Fadhl M., McCown, Phillip J., Harder, Jennifer L., Nair, Viji, Eichinger, Felix, Martini, Sebastian, Ademola, Adebowale D., Boima, Vincent, Reich, Heather N., El Saghir, Jamal, Godfrey, Bradley, Ju, Wenjun, Tanner, Emily C., Vega-Warner, Virginia, Wys, Noel L., Adler, Sharon G., Appel, Gerald B., Athavale, Ambarish, Atkinson, Meredith A., Bagnasco, Serena M., Barisoni, Laura, Brown, Elizabeth, Cattran, Daniel C., Coppock, Gaia M., Dell, Katherine M., Derebail, Vimal K., Fervenza, Fernando C., Fornoni, Alessia, Gadegbeku, Crystal A., Gibson, Keisha L., Greenbaum, Laurence A., Hingorani, Sangeeta R., Hladunewich, Michelle A., Hodgin, Jeffrey B., Hogan, Marie C., Holzman, Lawrence B., Jefferson, J. Ashley, Kaskel, Frederick J., Kopp, Jeffrey B., Lafayette, Richard A., Lemley, Kevin V., Lieske, John C., Lin, Jen-Jar, Menon, Rajarasee, Meyers, Kevin E., Nachman, Patrick H., Nast, Cynthia C., O’Shaughnessy, Michelle M., Otto, Edgar A., Reidy, Kimberly J., Sambandam, Kamalanathan K., Sedor, John R., Sethna, Christine B., Singer, Pamela, Srivastava, Tarak, Tran, Cheryl L., Tuttle, Katherine R., Vento, Suzanne M., Wang, Chia-shi, Ojo, Akinlolu O., Adu, Dwomoa, Gipson, Debbie S., Trachtman, Howard, and Kretzler, Matthias

Published
2023
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20. Anti-PLA2R Antibody Levels and Clinical Risk Factors for Treatment Nonresponse in Membranous Nephropathy

Author

Barbour, Sean J., Fervenza, Fernando C., Induruwage, Dilshani, Brenchley, Paul E., Rovin, Brad, Hladunewich, Michelle A., Reich, Heather N., Lafayette, Richard, Aslam, Nabeel, Appel, Gerald B., Zand, Ladan, Kiryluk, Krzysztof, Liu, Lili, Cattran, Daniel C., Fervenza, F.C., Cattran, D.C., Appel, J., Gipson, D., Kretzler, M., Rovin, B., Fervenza, F.C., Lieske, J.C., Leung, N., Erickson, S.B., Radhakrishnan, J., Bomback, A., Hogan, J., Canetta, P., Ahn, W., Lafayette, R., Arora, N., Nargund, P., Rovin, B., Alvarado, A., Parikh, S., Hebert, L.A., Aslam, N., Gipson, P., Kretzler, M., Plattner, B., Gipson, D., Mariani, L., Garg, P., Rao, P., Sedor, J., O’Toole, J., Jefferson, J.A., Nelson, P.J., McCarthy, E., Yarlagadda, S., Jain, N., Rizk, D., Simon, J., Gebreselassie, S., Blumenthal, S., Beara-Lasic, L., Zhdanova, O., Thomas, L., Cohen, I., Keddis, M., Sussman, A., Thajudeen, B., Fulop, T., Craici, I., Wagner, S., Dreisbach, A., Monga, D., Green, D., Mattiazzi, A., Nayer, A., Thomas, D., Barisoni, L., Li, T., Vijayan, A., Juncos, L., Cattran, D.C., Reich, H., Hladunewich, M., Barbour, S., Levin, A., Philibert, D., Mac-Way, F., Desmeules, S., Ankawi, G., Sethi, S., Avila-Casado, C., and Brenchley, P.

Published
2023
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21. Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation

Author

Amer, Hatem, Fervenza, Fernando, Leung, Nelson, Tran, Cheryl, Zand, Ladan, Alkhateeb, Hassan, Go, Ronald, Hogan, William, Hook, Christopher, Pruthi, Rajiv, Sridharan, Meera, Adamski, Jill, Murray, David, Winters, Jeffrey, Alexander, Mariam, Chen, Dong, Moyer, Ann, Sethi, Sanjeev, Willrich, Maria, Heikal, Nahla, Acosta-Medina, Aldo A., Moyer, Ann M., Go, Ronald S., Willrich, Maria Alice V., Fervenza, Fernando C., Bourlon, Christianne, Winters, Jeffrey L., Spears, Grant M., and Bryant, Sandra C.

Published
2023
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22. Noninvasive Urinary Monitoring of Progression in IgA Nephropathy.

Author

Yang, Joshua YC, Sarwal, Reuben D, Fervenza, Fernando C, Sarwal, Minnie M, and Lafayette, Richard A

Subjects
Kidney, Humans, Glomerulonephritis, IGA, Proteinuria, Disease Progression, Creatinine, Adrenal Cortex Hormones, Immunoglobulin A, Immunologic Factors, Kidney Function Tests, Monitoring, Physiologic, Sensitivity and Specificity, Prospective Studies, Adult, Middle Aged, Female, Male, Young Adult, Biomarkers, Rituximab, IgA nephropathy, KIT assay, KIT-IgA score, diagnostics, noninvasive, prediction, Glomerulonephritis, IGA, Monitoring, Physiologic, Other Chemical Sciences, Genetics, Other Biological Sciences, Chemical Physics
Abstract

Standard methods for detecting and monitoring of IgA nephropathy (IgAN) have conventionally required kidney biopsies or suffer from poor sensitivity and specificity. The Kidney Injury Test (KIT) Assay of urinary biomarkers has previously been shown to distinguish between various kidney pathologies, including chronic kidney disease, nephrolithiasis, and transplant rejection. This validation study uses the KIT Assay to investigate the clinical utility of the non-invasive detection of IgAN and predicting the progression of renal damage over time. The study design benefits from longitudinally collected urine samples from an investigator-initiated, multicenter, prospective study, evaluating the efficacy of corticosteroids versus Rituximab for preventing progressive IgAN. A total of 131 urine samples were processed for this study; 64 urine samples were collected from 34 IgAN patients, and urine samples from 64 demographically matched healthy controls were also collected; multiple urinary biomarkers consisting of cell-free DNA, methylated cell-free DNA, DMAIMO, MAMIMO, total protein, clusterin, creatinine, and CXCL10 were measured by the microwell-based KIT Assay. An IgA risk score (KIT-IgA) was significantly higher in IgAN patients as compared to healthy control (87.76 vs. 14.03, p < 0.0001) and performed better than proteinuria in discriminating between the two groups. The KIT Assay biomarkers, measured on a spot random urine sample at study entry could distinguish patients likely to have progressive renal dysfunction a year later. These data support the pursuit of larger prospective studies to evaluate the predictive performance of the KIT-IgA score in both screening for non-invasive diagnosis of IgAN, and for predicting risk of progressive renal disease from IgA and utilizing the KIT score for potentially evaluating the efficacy of IgAN-targeted therapies.

Published
2019

25. Treatment of Antineutrophil Cytoplasmic Antibody–Associated Vasculitis With Diffuse Alveolar Hemorrhage With Avacopan.

Author

Falde, Sam D., Lal, Amos, Cartin‐Ceba, Rodrigo, Mertz, Lester E., Fervenza, Fernando C., Zand, Ladan, Koster, Matthew J., Warrington, Kenneth J., Lee, Augustine S., Aslam, Nabeel, Abril, Andy, and Specks, Ulrich

Subjects
VASCULITIS, COMBINATION drug therapy, PULMONARY alveoli, PATIENT safety, ANTINEUTROPHIL cytoplasmic antibodies, MICROSCOPIC polyangiitis, ENZYME-linked immunosorbent assay, DRUG therapy, COMPLEMENT (Immunology), RITUXIMAB, TREATMENT effectiveness, RETROSPECTIVE studies, DESCRIPTIVE statistics, ORAL drug administration, LONGITUDINAL method, GRANULOMATOSIS with polyangiitis, INTRAVENOUS therapy, DRUG efficacy, METHYLPREDNISOLONE, HEMORRHAGE, CYCLOPHOSPHAMIDE, GLUCOCORTICOIDS, DISEASE complications, SYMPTOMS
Abstract

Objective: Avacopan, an activated complement factor 5 receptor antagonist, has been approved as adjunct therapy for severe active antineutrophil cytoplasmic antibody–associated vasculitis (AAV). Current evidence supports the management of AAV presenting with diffuse alveolar hemorrhage (DAH) by administering glucocorticoids combined with either rituximab or cyclophosphamide in addition to supportive care. The role of avacopan in patients with DAH as a primary severe disease manifestation of AAV has not been well established. Furthermore, concerns remain regarding timely access to avacopan, the best glucocorticoid tapering regimen, and long‐term efficacy and safety of the drug. We sought to identify clinical features and outcomes of patients presenting with DAH secondary to AAV who received avacopan in addition to glucocorticoids and rituximab or cyclophosphamide. Methods: We performed a retrospective cohort study of all consecutive patients presenting with DAH as part of active severe granulomatosis with polyangiitis or microscopic polyangiitis. Demographic and clinical characteristics were collected at presentation and follow‐up. Results: Fifteen patients met inclusion criteria and were observed for a median time of 17 weeks (interquartile range [IQR] 6–37 weeks) after initiation of avacopan. Patients were predominantly female and White, had never smoked, and were a median age of 66 years (IQR 52–72 years) at diagnosis. The majority had newly diagnosed severe AAV with renal involvement. Three patients progressed to respiratory failure. The timing of avacopan introduction and patterns of glucocorticoid tapers varied widely in this cohort. Two serious adverse events related to infection were observed, including one opportunistic infection leading to the patient's death, although neither was directly attributed to avacopan administration. Conclusion: We describe the clinical course of patients who presented with the severe AAV disease manifestation of DAH and received avacopan as adjunct therapy. Most patients achieved remission during follow‐up, and adverse events, including infection, were observed. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Impact of Glucocorticoid Dose on Complete Response, Serious Infections, and Mortality During the Initial Therapy of Lupus Nephritis: A Systematic Review and Meta‐Analysis of the Control Arms of Randomized Controlled Trials.

Author

Figueroa‐Parra, Gabriel, Cuéllar‐Gutiérrez, María C., González‐Treviño, Mariana, Sanchez‐Rodriguez, Alain, Flores‐Gouyonnet, Jaime, Meade‐Aguilar, José A., Prokop, Larry J., Murad, M. Hassan, Dall'Era, María, Rovin, Brad H., Houssiau, Frédéric, Tamirou, Farah, Fervenza, Fernando C., Crowson, Cynthia S., Putman, Michael S., and Duarte‐García, Alí

Subjects
MORTALITY, BIOPSY, COMBINATION drug therapy, PROTEINURIA, LUPUS nephritis, IMMUNOSUPPRESSIVE agents, DEATH, RESEARCH funding, PATHOLOGIC complete response, MYCOPHENOLIC acid, DRUG therapy, INFECTION, TREATMENT effectiveness, META-analysis, PREDNISONE, DESCRIPTIVE statistics, SYSTEMATIC reviews, DOSE-effect relationship in pharmacology, CONFIDENCE intervals, GLUCOCORTICOIDS, KIDNEYS, CYCLOPHOSPHAMIDE, THERAPEUTICS
Abstract

Objective: Our objective was to evaluate the effect of glucocorticoid regimens on renal response, infections, and mortality among patients with lupus nephritis (LN). Methods: We performed a systematic review and meta‐analysis of the control arms of randomized clinical trials (RCTs). We included RCTs of biopsy‐proven LN that used a protocolized regimen of glucocorticoids in combination with mycophenolic acid analogs or cyclophosphamide and reported the outcomes of complete response (CR), serious infections, and death. The starting dosage of glucocorticoids, tapering method, and administration of glucocorticoid pulses were abstracted. Meta‐analysis of proportions, meta‐regression, and subgroup meta‐analysis were performed at 6 and 12 months for all outcomes. Results: Fifty RCT arms (3,231 patients with LN) were included. The predicted rates of CR, serious infections, and death when starting on oral prednisone at 25 mg/day without pulses were 19.5% (95% confidence interval [CI] 7.3–31.5), 3.2% (95% CI 2.4–4.0), and 0.2% (95% CI 0.0–0.4), respectively. Starting on prednisone at 60 mg/day (without pulses) increased the rates to 34.6% (95% CI 16.9–52.3), 12.1% (95% CI 9.3–14.9), and 2.7% (95% CI 0.0–5.3), respectively. Adding glucocorticoid pulses increased the rates of CR and death but not serious infections. We observed a dose–response gradient between the initial glucocorticoid dosage and all the outcomes at six months after accounting for the administration of glucocorticoid pulses, underlying immunosuppressant, and baseline proteinuria. Conclusion: A higher exposure to glucocorticoids during the initial therapy of LN was associated with better renal outcomes at the cost of increased infections and death. [ABSTRACT FROM AUTHOR]

Published
2024
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31. O40 Impact of glucocorticoid dose on complete response, serious infections, and mortality during the initial therapy of lupus nephritis: a systematic review and meta-analysis of the standard of care arms of randomized controlled trials

Author

Figueroa-Parra, Gabriel, primary, Cuéllar-Gutiérrez, María C, additional, González-Treviño, Mariana, additional, Sanchez-Rodriguez, Alain, additional, Flores-Gouyonnet, Jaime, additional, Meade-Aguilar, José A, additional, Prokop, Larry J, additional, Hassan Murad, M, additional, Dall’Era, Maria, additional, Rovin, Brad H, additional, Houssiau, Frédéric, additional, Tamirou, Farah, additional, Fervenza, Fernando C, additional, Crowson, Cynthia S, additional, Putman, Michael S, additional, and Duarte-García, Alí, additional

Published
2024
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32. KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases

Author

Rovin, Brad H., Adler, Sharon G., Barratt, Jonathan, Bridoux, Frank, Burdge, Kelly A., Chan, Tak Mao, Cook, H. Terence, Fervenza, Fernando C., Gibson, Keisha L., Glassock, Richard J., Jayne, David R.W., Jha, Vivekanand, Liew, Adrian, Liu, Zhi-Hong, Mejía-Vilet, Juan Manuel, Nester, Carla M., Radhakrishnan, Jai, Rave, Elizabeth M., Reich, Heather N., Ronco, Pierre, Sanders, Jan-Stephan F., Sethi, Sanjeev, Suzuki, Yusuke, Tang, Sydney C.W., Tesar, Vladimir, Vivarelli, Marina, Wetzels, Jack F.M., and Floege, Jürgen

Published
2021
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33. Executive summary of the KDIGO 2021 Guideline for the Management of Glomerular Diseases

Author

Rovin, Brad H., Adler, Sharon G., Barratt, Jonathan, Bridoux, Frank, Burdge, Kelly A., Chan, Tak Mao, Cook, H. Terence, Fervenza, Fernando C., Gibson, Keisha L., Glassock, Richard J., Jayne, David R.W., Jha, Vivekanand, Liew, Adrian, Liu, Zhi-Hong, Mejía-Vilet, Juan M., Nester, Carla M., Radhakrishnan, Jai, Rave, Elizabeth M., Reich, Heather N., Ronco, Pierre, Sanders, Jan-Stephan F., Sethi, Sanjeev, Suzuki, Yusuke, Tang, Sydney C.W., Tesar, Vladimír, Vivarelli, Marina, Wetzels, Jack F.M., Lytvyn, Lyubov, Craig, Jonathan C., Tunnicliffe, David J., Howell, Martin, Tonelli, Marcello A., Cheung, Michael, Earley, Amy, and Floege, Jürgen

Published
2021
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34. Development of an international Delphi survey to establish core outcome domains for trials in adults with glomerular disease

Author

Carter, Simon A., Logeman, Charlotte, Howell, Martin, Cattran, Dan, Lightstone, Liz, Bagga, Arvind, Barbour, Sean J., Barratt, Jonathan, Boletis, John, Caster, Dawn J., Coppo, Rosanna, Fervenza, Fernando C., Floege, Jürgen, Hladunewich, Michelle A., Hogan, Jonathan J., Kitching, A. Richard, Lafayette, Richard A., Malvar, Ana, Radhakrishnan, Jai, Rovin, Brad H., Scholes-Robertson, Nicole, Trimarchi, Hérnan, Zhang, Hong, Cho, Yeoungjee, Dunn, Louese, Gipson, Debbie S., Liew, Adrian, Sautenet, Benedicte, Viecelli, Andrea K., Harris, David, Johnson, David W., Wang, Angela Yee-Moon, Teixeira-Pinto, Armando, Alexander, Stephen I., Martin, Adam, Tong, Allison, and Craig, Jonathan C.

Published
2021
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35. Genomics Integration Into Nephrology Practice

Author

Pinto e Vairo, Filippo, Prochnow, Carri, Kemppainen, Jennifer L., Lisi, Emily C., Steyermark, Joan M., Kruisselbrink, Teresa M., Pichurin, Pavel N., Dhamija, Rhadika, Hager, Megan M., Albadri, Sam, Cornell, Lynn D., Lazaridis, Konstantinos N., Klee, Eric W., Senum, Sarah R., El Ters, Mireille, Amer, Hatem, Baudhuin, Linnea M., Moyer, Ann M., Keddis, Mira T., Zand, Ladan, Sas, David J., Erickson, Stephen B., Fervenza, Fernando C., Lieske, John C., Harris, Peter C., and Hogan, Marie C.

Published
2021
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37. APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis

Author

Zee, Jarcy, McNulty, Michelle T., Hodgin, Jeffrey B., Zhdanova, Olga, Hingorani, Sangeeta, Jefferson, Jonathan Ashley, Gibson, Keisha L., Trachtman, Howard, Fornoni, Alessia, Dell, Katherine M., Reich, Heather N., Bagnasco, Serena, Greenbaum, Larry A., Lafayette, Richard A., Gipson, Debbie S., Brown, Elizabeth, Kretzler, Matthias, Appel, Gerald, Sambandam, Kamalanathan K., Tuttle, Katherine R., Chen, Dhruti, Atkinson, Meredith A., Hogan, Marie C., Kaskel, Frederick J., Meyers, Kevin E., O’Toole, John, Srivastava, Tarak, Sethna, Christine B., Hladunewich, Michelle A., Lin, JJ, Nast, Cynthia C., Derebail, Vimal K., Patel, Jiten, Vento, Suzanne, Holzman, Lawrence B., Athavale, Ambarish M., Adler, Sharon G., Lemley, Kevin V., Lieske, John C., Hogan, Jonathan J., Gadegbeku, Crystal A., Fervenza, Fernando C., Wang, Chia-Shi, Matar, Raed Bou, Singer, Pamela, Kopp, Jeffrey B., Barisoni, Laura, and Sampson, Matthew G.

Published
2021
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39. A reliable clinical test for detection of membranous nephropathy antigens using laser microdissection and mass spectrometry

Author

Vrana, Julie A., Theis, Jason D., Wegwerth, Peter J., Dasari, Surendra, Madden, Benjamin, Nasr, Samih H., Fidler, Mary E., McPhail, Ellen D., Fervenza, Fernando C., and Sethi, Sanjeev

Abstract

Membranous nephropathy (MN) results from accumulation of antigen-antibody immune complexes along the subepithelial region of the glomerular basement membranes. Over the last years, 13 target antigens have been discovered and include PLA2R, THSD7A, EXT1 and EXT2, NELL1, SEMA3B, NCAM1, CNTN1, HTRA1, FAT1, PCDH7, NTNG1, PCSK6 and NDNF, accounting for 80-90% of MN antigens. MN associated with many of these antigens have distinctive clinicopathologic findings. It is important to accurately identify the antigen in MN. Immunohistochemical (IHC) and/or immunofluorescence (IF) methods are currently used to detect PLA2R, THSD7A, NELL1, SEMA3B and EXT1/EXT2. However, for the remaining antigens, IHC/IF methods do not exist and are not practical for detection. Here, we developed laser microdissection-based mass spectrometry methodology (LMD/MS) as a one-stop clinical test for the detection of MN antigens using paraffin-embedded kidney biopsy tissue. The LMD/MS test was validated in two steps. LMD/MS was used to detect the antigen in 75 cases of MN with known antigens and correctly identified the antigen in all these cases. Next, LMD/MS was used to identify the antigen in 61 MN cases where the antigen was unknown and identified one of the known antigens in 40 of 61 cases including many of the less common antigens. This lower-than-expected detection rate is explained by intentional enrichment of the cohort with PLA2R-negative MN. Overall, PLA2R was identified in 16.4%, one of the other antigens detected in 49.1%, and in the remaining 34.5% of cases, none of the above antigens was detected. Thus, LMD/MS is an extremely useful and reliable method for the detection of known MN antigens and possibly indicating an unknown MN antigen for eventual discovery.

Published
2024
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41. Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis Nephritis

Author

Barbour, S, Coppo, R, Er, L, Pillebout, E, Russo, M, Alpers, C, Fogo, A, Ferrario, F, Jennette, J, Roberts, I, Cook, H, Ding, J, Su, B, Zhong, X, Fervenza, F, Zand, L, Peruzzi, L, Lucchetti, L, Katafuchi, R, Shima, Y, Yoshikawa, N, Ichikawa, D, Suzuki, Y, Murer, L, Wyatt, R, Nelson, R, Narus, J, Wenderfer, S, Geetha, D, Daugas, E, Monteiro, R, Nakatani, S, Mastrangelo, A, Nuutinen, M, Koskela, M, Weber, L, Hackl, A, Pohl, M, Pecoraro, C, Tsuboi, N, Yokoo, T, Takafumi, I, Fujimoto, S, Conti, G, Santoro, D, Materassi, M, Zhang, H, Shi, S, Liu, Z, Tesar, V, Maixnerova, D, Avila-Casado, C, Bajema, I, Barreca, A, Becker, J, Comstock, J, Cornea, V, Eldin, K, Hernandez, L, Hou, J, Joh, K, Lin, M, Messias, N, Muda, A, Pagni, F, Diomedi-Camassei, F, Tokola, H, D’Armiento, M, Seidl, M, Rosenberg, A, Sannier, A, Soares, M, Wang, S, Zeng, C, Haas, M, Barbour, Sean J., Coppo, Rosanna, Er, Lee, Pillebout, Evangeline, Russo, Maria Luisa, Alpers, Charles E., Fogo, Agnes B., Ferrario, Franco, Jennette, J. Charles, Roberts, Ian S. D., Cook, H. Terence, Ding, Jie, Su, Baige, Zhong, Xuhui, Fervenza, Fernando C., Zand, Ladan, Peruzzi, Licia, Lucchetti, Laura, Katafuchi, Ritsuko, Shima, Yuko, Yoshikawa, Norishige, Ichikawa, Daisuke, Suzuki, Yusuke, Murer, Luisa, Wyatt, Robert J., Nelson, Raoul D., Narus, JoAnn H., Wenderfer, Scott, Geetha, Duvuru, Daugas, Eric, Monteiro, Renato C., Nakatani, Shinya, Mastrangelo, Antonio, Nuutinen, Matti, Koskela, Mikael, Weber, Lutz T, Hackl, Agnes, Pohl, Martin, Pecoraro, Carmine, Tsuboi, Nobuo, Yokoo, Takashi, Takafumi, Ito, Fujimoto, Shouichi, Conti, Giovanni, Santoro, Domenico, Materassi, Marco, Zhang, Hong, Shi, Sufang, Liu, Zhi-Hong, Tesar, Vladimir, Maixnerova, Dita, Avila-Casado, Carmen, Bajema, Ingeborg, Barreca, Antonella, Becker, Jan U., Comstock, Jessica M., Cornea, Virgilius, Eldin, Karen, Hernandez, Loren Herrera, Hou, Jean, Joh, Kensuke, Lin, Mercury, Messias, Nidia, Muda, Andrea Onetti, Pagni, Fabio, Diomedi-Camassei, Francesca, Tokola, Heikki, D’Armiento, Maria, Seidl, Maximilian, Rosenberg, Avi, Sannier, Aurélie, Soares, Maria Fernanda, Wang, Suxia, Zeng, Caihong, Haas, Mark, Barbour, S, Coppo, R, Er, L, Pillebout, E, Russo, M, Alpers, C, Fogo, A, Ferrario, F, Jennette, J, Roberts, I, Cook, H, Ding, J, Su, B, Zhong, X, Fervenza, F, Zand, L, Peruzzi, L, Lucchetti, L, Katafuchi, R, Shima, Y, Yoshikawa, N, Ichikawa, D, Suzuki, Y, Murer, L, Wyatt, R, Nelson, R, Narus, J, Wenderfer, S, Geetha, D, Daugas, E, Monteiro, R, Nakatani, S, Mastrangelo, A, Nuutinen, M, Koskela, M, Weber, L, Hackl, A, Pohl, M, Pecoraro, C, Tsuboi, N, Yokoo, T, Takafumi, I, Fujimoto, S, Conti, G, Santoro, D, Materassi, M, Zhang, H, Shi, S, Liu, Z, Tesar, V, Maixnerova, D, Avila-Casado, C, Bajema, I, Barreca, A, Becker, J, Comstock, J, Cornea, V, Eldin, K, Hernandez, L, Hou, J, Joh, K, Lin, M, Messias, N, Muda, A, Pagni, F, Diomedi-Camassei, F, Tokola, H, D’Armiento, M, Seidl, M, Rosenberg, A, Sannier, A, Soares, M, Wang, S, Zeng, C, Haas, M, Barbour, Sean J., Coppo, Rosanna, Er, Lee, Pillebout, Evangeline, Russo, Maria Luisa, Alpers, Charles E., Fogo, Agnes B., Ferrario, Franco, Jennette, J. Charles, Roberts, Ian S. D., Cook, H. Terence, Ding, Jie, Su, Baige, Zhong, Xuhui, Fervenza, Fernando C., Zand, Ladan, Peruzzi, Licia, Lucchetti, Laura, Katafuchi, Ritsuko, Shima, Yuko, Yoshikawa, Norishige, Ichikawa, Daisuke, Suzuki, Yusuke, Murer, Luisa, Wyatt, Robert J., Nelson, Raoul D., Narus, JoAnn H., Wenderfer, Scott, Geetha, Duvuru, Daugas, Eric, Monteiro, Renato C., Nakatani, Shinya, Mastrangelo, Antonio, Nuutinen, Matti, Koskela, Mikael, Weber, Lutz T, Hackl, Agnes, Pohl, Martin, Pecoraro, Carmine, Tsuboi, Nobuo, Yokoo, Takashi, Takafumi, Ito, Fujimoto, Shouichi, Conti, Giovanni, Santoro, Domenico, Materassi, Marco, Zhang, Hong, Shi, Sufang, Liu, Zhi-Hong, Tesar, Vladimir, Maixnerova, Dita, Avila-Casado, Carmen, Bajema, Ingeborg, Barreca, Antonella, Becker, Jan U., Comstock, Jessica M., Cornea, Virgilius, Eldin, Karen, Hernandez, Loren Herrera, Hou, Jean, Joh, Kensuke, Lin, Mercury, Messias, Nidia, Muda, Andrea Onetti, Pagni, Fabio, Diomedi-Camassei, Francesca, Tokola, Heikki, D’Armiento, Maria, Seidl, Maximilian, Rosenberg, Avi, Sannier, Aurélie, Soares, Maria Fernanda, Wang, Suxia, Zeng, Caihong, and Haas, Mark

Abstract

BACKGROUND: Nephritis is a common manifestation of IgA vasculitis and is morphologically indistinguishable from IgA nephropathy. While MEST-C scores are predictive of kidney outcomes in IgA nephropathy, their value in IgA vasculitis nephritis has not been investigated in large multiethnic cohorts. METHODS: Biopsies from 262 children and 99 adults with IgA vasculitis nephritis ( N =361) from 23 centers in North America, Europe, and Asia were independently scored by three pathologists. MEST-C scores were assessed for correlation with eGFR/proteinuria at biopsy. Because most patients ( N =309, 86%) received immunosuppression, risk factors for outcomes were evaluated in this group using latent class mixed models to identify classes of eGFR trajectories over a median follow-up of 2.7 years (interquartile range, 1.2-5.1). Clinical and histologic parameters associated with each class were determined using logistic regression. RESULTS: M, E, T, and C scores were correlated with either eGFR or proteinuria at biopsy. Two classes were identified by latent class mixed model, one with initial improvement in eGFR followed by a late decline (class 1, N =91) and another with stable eGFR (class 2, N =218). Class 1 was associated with a higher risk of an established kidney outcome (time to ≥30% decline in eGFR or kidney failure; hazard ratio, 5.84; 95% confidence interval, 2.37 to 14.4). Among MEST-C scores, only E1 was associated with class 1 by multivariable analysis. Other factors associated with class 1 were age 18 years and younger, male sex, lower eGFR at biopsy, and extrarenal noncutaneous disease. Fibrous crescents without active changes were associated with class 2. CONCLUSIONS: Kidney outcome in patients with biopsied IgA vasculitis nephritis treated with immunosuppression was determined by clinical risk factors and endocapillary hypercellularity (E1) and fibrous crescents, which are features that are not part of the International Study of Diseases of Children classificatio

Published
2024

44. Longitudinal Changes in Health-Related Quality of Life in Primary Glomerular Disease: Results From the CureGN Study

Author

Gharavi, Ali, Ahn, Wooin, Appel, Gerald B., Avasare, Rupali S., Babayev, Revekka, Batal, Ibrahim, Bomback, Andrew S., Brown, Eric, Campenot, Eric S., Canetta, Pietro, Chan, Brenda, D’Agati, Vivette D., Fernandez, Hilda, Foroncewicz, Bartosz, Ghiggeri, Gian Marco, Hines, William H., Jain, Namrata G., Kiryluk, Krzysztof, Lin, Fangming, Lugani, Francesca, Marasa, Maddalena, Markowitz, Glen, Mohan, Sumit, Mucha, Krzysztof, Nickolas, Thomas L., Radhakrishnan, Jai, Rao, Maya K., Regunathan-Shenk, Renu, Sanna-Cherchi, Simone, Santoriello, Dominick, Stokes, Michael B., Yu, Natalie, Valeri, Anthony M., Zviti, Ronald, Greenbaum, Larry A., Smoyer, William E., Al-Uzri, Amira, Ashoor, Isa, Aviles, Diego, Baracco, Rossana, Barcia, John, Bartosh, Sharon, Belsha, Craig, Braun, Michael C., Chishti, Aftab, Claes, Donna, Cramer, Carl, Davis, Keefe, Erkan, Elif, Feig, Daniel, Freundlich, Michael, Hanna, Melisha, Hidalgo, Guillermo, Jain, Amrish, Khalid, Myda, Kallash, Mahmoud, Lane, Jerome C., Mahan, John, Mathews, Nisha, Nester, Carla, Pan, Cynthia, Patel, Hiren, Revell, Adelaide, Sreedharan, Rajasree, Steinke, Julia, Wenderfer, Scott E., Wong, Craig S., Falk, Ronald, Cook, William, Derebail, Vimal, Fogo, Agnes, Gasim, Adil, Gehr, Todd, Harris, Raymond, Kidd, Jason, Laurin, Louis-Philippe, Pendergraft, Will, Pichette, Vincent, Powell, Thomas Brian, Renfrow, Matthew B., Royal, Virginie, Holzman, Lawrence B., Adler, Sharon, Alpers, Charles, Matar, Raed Bou, Brown, Elizabeth, Choi, Michael, Dell, Katherine M., Dukkipati, Ram, Fervenza, Fernando C., Fornoni, Alessia, Gadegbeku, Crystal, Gipson, Patrick, Hasely, Leah, Hingorani, Sangeeta, Hladunewich, Michelle A., Hogan, Jonathan, Jefferson, J. Ashley, Jhaveri, Kenar, Johnstone, Duncan B., Kaskel, Frederick, Kogan, Amy, Kopp, Jeffrey, Lemley, Kevin V., Dieguez, Laura Malaga, Meyers, Kevin, Neu, Alicia, O'Shaughnessy, Michelle Marie, O’Toole, John F., Parekh, Rulan, Reich, Heather, Reidy, Kimberly, Rondon, Helbert, Sambandam, Kamalanathan K., Sedor, John R., Selewski, David T., Sethna, Christine B., Schelling, Jeffrey, Sperati, John C., Swiatecka-Urban, Agnes, Trachtman, Howard, Tuttle, Katherine R., Weisstuch, Joseph, Zhdanova, Olga, Gillespie, Brenda, Gipson, Debbie S., Herreshoff, Emily, Kretzler, Matthias, Robinson, Bruce M., Mariani, Laura, Troost, Jonathan P., Wladkowski, Matthew, Guay-Woodford, Lisa M., Murphy, Shannon L., Mahan, John D., Srivastava, Tarak, Kogon, Amy J., Cai, Yi, Davis, T. Keefe, Gbadegesin, Rasheed A., Canetta, Pietro A., Nachman, Patrick H., Reeve, Bryce B., Wang, Chia-shi, and Bartosh, Sharon M.

Published
2020
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45. Standardized reporting of monoclonal immunoglobulin–associated renal diseases: recommendations from a Mayo Clinic/Renal Pathology Society Working Group

Author

Sethi, Sanjeev, Nast, Cynthia C., D’Agati, Vivette D., Fervenza, Fernando C., Glassock, Richard J., Stokes, Michael B., De Vriese, An S., Appel, Gerald B., Chang, Anthony, Cosio, Fernando, Herrera Hernandez, Loren, Markowitz, Glen S., Kumar, Shaji K., Alexander, Mariam P., Amer, Hatem, Murray, David, Nasr, Samih H., Leung, Nelson, Pani, Antonello, Picken, Maria M., Ravindran, Aishwarya, Roccatello, Dario, Ronco, Pierre, Royal, Virginie, Smith, Kelly D., Wechalekar, Ashutosh D., Wetzels, Jack, Zand, Ladan, Zhang, Pingchuan, and Haas, Mark

Published
2020
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48. Mayo Clinic consensus report on membranous nephropathy: proposal for a novel classification

Author

Sethi, Sanjeev, primary, Beck, Laurence H., additional, Glassock, Richard J., additional, Haas, Mark, additional, De Vriese, An S., additional, Caza, Tiffany N., additional, Hoxha, Elion, additional, Lambeau, Gérard, additional, Tomas, Nicola M., additional, Madden, Benjamin, additional, Debiec, Hanna, additional, D’Agati, Vivette D., additional, Alexander, Mariam P., additional, Amer, Hatem, additional, Appel, Gerald B., additional, Barbour, Sean J., additional, Caravaca-Fontan, Fernando, additional, Cattran, Daniel C., additional, Casal Moura, Marta, additional, D’Avila, Domingos O., additional, Eick, Renato G., additional, Garovic, Vesna D., additional, Greene, Eddie L., additional, Herrera Hernandez, Loren P., additional, Jennette, J. Charles, additional, Lieske, John C., additional, Markowitz, Glen S., additional, Nath, Karl A., additional, Nasr, Samih H., additional, Nast, Cynthia C., additional, Pani, Antonello, additional, Praga, Manuel, additional, Remuzzi, Giuseppe, additional, Rennke, Helmut G., additional, Ruggenenti, Piero, additional, Roccatello, Dario, additional, Soler, Maria Jose, additional, Specks, Ulrich, additional, Stahl, Rolf A.K., additional, Singh, Raman Deep, additional, Theis, Jason D., additional, Velosa, Jorge A., additional, Wetzels, Jack F.M., additional, Winearls, Christopher G., additional, Yandian, Federico, additional, Zand, Ladan, additional, Ronco, Pierre, additional, and Fervenza, Fernando C., additional

Published
2023
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49. Membranous nephropathy

Author

Ronco, Pierre, Beck, Laurence, Debiec, Hanna, Fervenza, Fernando C., Hou, Fan Fan, Jha, Vivekanand, Sethi, Sanjeev, Tong, Allison, Vivarelli, Marina, and Wetzels, Jack

Published
2021
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