Article
Hematology
Simon J. Stanworth, Andrew D. Mumford
Summary: Neonatal thrombocytopenia is a common abnormality in babies admitted to neonatal intensive care units, with various potential causes including bacterial sepsis, viral infection, and genetic disorders. Accurate diagnosis is crucial for assessing adverse events and selecting appropriate treatments, such as platelet transfusion. Recent advances in genomic technology and clinical trials have influenced the landscape of diagnosis and management, with an increasing emphasis on judicious and restricted use of platelet transfusions.
Article
Urology & Nephrology
Gema Ariceta, Bradley P. Dixon, Seong Heon Kim, Gaurav Kapur, Teri Mauch, Stephan Ortiz, Marc Vallee, Andrew E. Denker, Hee Gyung Kang, Larry A. Greenbaum
Summary: Ravulizumab rapidly improved hematologic and kidney parameters in complement inhibitor-naive children with atypical hemolytic uremic syndrome, showing no unexpected safety concerns.
KIDNEY INTERNATIONAL
(2021)
Review
Hematology
Brunangelo Falini, Lorenzo Brunetti, Maria Paola Martelli
Summary: Mutations of the nucleophosmin (NPM1) gene play a crucial role in adult acute myeloid leukemia (AML), with unique molecular, pathological, and clinical features. Accurate diagnosis and distinction of NPM1-mutated AML from other entities is important for guiding treatment decisions and assessing relapse risk. Monitoring measurable residual disease (MRD) using NPM1 mutations can provide valuable insights for therapeutic management after remission.
Article
Urology & Nephrology
Mendy ter Avest, Hilbert Steenbreker, Romy N. Bouwmeester, Caroline Duineveld, Kioa L. Wijnsma, Lambertus P. W. J. van den Heuvel, Saskia M. C. Langemeijer, Jack F. M. Wetzels, Nicole C. A. J. van de Kar, Rob ter Heine, CUREiHUS Study Grp
Summary: This study investigated the effect of proteinuria on the pharmacokinetics of eculizumab. The findings suggest that patients with severe proteinuria have a higher risk of underexposure to eculizumab.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Hematology
Wilma Barcellini, Bruno Fattizzo
Summary: Warm autoimmune hemolytic anemia is a disease caused by increased destruction of red blood cells by IgG autoantibodies, with complex pathogenic mechanisms and unpredictable prognosis. Treatment options include steroids, splenectomy, immunosuppressants, and rituximab, but challenges exist in choosing and managing these therapies.
Review
Hematology
Mrinal M. Patnaik
Summary: CMML is a myelodysplastic syndrome/myeloproliferative overlap neoplasm with potential risk of transformation to acute myeloid leukemia. While allogeneic stem cell transplant is the potential cure, it is limited by age and comorbidities of affected patients. DNA methyltransferase inhibitors are approved for management, but their efficacy is limited and personalized/targeted therapies are needed.
Review
Hematology
Sigbjorn Berentsen
Summary: Significant progress has been made in the treatment of CAD in recent decades, with recommendations mainly based on nonrandomized trials and personal experience due to the lack of comparative trials. Individualized treatment options tailored to patients' symptoms and disease characteristics are crucial to avoid ineffective therapies.
Article
Urology & Nephrology
Thomas Barbour, Marie Scully, Gema Ariceta, Spero Cataland, Katherine Garlo, Nils Heyne, Yosu Luque, Jan Menne, Yoshitaka Miyakawa, Sung-Soo Yoon, David Kavanagh
Summary: Ravulizumab demonstrates long-term efficacy and safety in adults with aHUS, providing additional clinical benefits beyond 6 months of treatment, with most adverse events occurring early during the initial evaluation period and decreasing over time.
KIDNEY INTERNATIONAL REPORTS
(2021)
Review
Hematology
M. R. Thomas, M. Scully
Summary: MAHA with thrombocytopenia in cancer patients can be caused by the malignancy itself, treatment, or separate incidental diagnoses. Prompt differentiation of different types of TMA is crucial for treatment and outcome. The causes and treatment strategies for TMA in cancer patients are complex and diverse.
Article
Immunology
Sarah de Jong, Anita de Breuk, Bjorn Bakker, Suresh Katti, Carel B. Hoyng, Sara C. Nilsson, Anna M. Blom, Lambert P. van den Heuvel, Anneke I. den Hollander, Elena B. Volokhina
Summary: Complement factor I (FI) is a key regulator of the complement system, and its dysfunction is associated with increased complement activation and diseases like AMD and aHUS. This study identified CFI gene variants in AMD and aHUS, with more than half leading to reduced FI secretion levels. Functional analysis of 11 rare missense variants revealed 8 variants with impaired C3b degradation, suggesting their likely pathogenicity. Monitoring iC3b in a degradation assay is a useful tool for assessing the functional impact of CFI variants.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
I-Ru Chen, Guei-Jane Wang, Po-Ren Hsueh, Chia-Hui Chou, Long-Bin Jeng, Hui-Ju Lin, Huang-Jiun Liao, Ping-Chin Lai, Jan-Gowth Chang, Chiu-Ching Huang
Summary: This study evaluated the immune responses and safety of COVID-19 vaccination in patients with atypical hemolytic uremic syndrome (aHUS) in Taiwan. The results showed that the vaccines effectively protected aHUS patients from severe COVID-19 complications without significant safety concerns. Transplant aHUS patients had lower immune response titers, indicating a need for additional vaccine doses.
Article
Peripheral Vascular Disease
Richard M. Burwick, Kimberly Moyle, Anuja Java, Megha Gupta
Summary: Peak serum creatinine and LDH levels are important parameters for differentiating pregnancy-associated atypical hemolytic uremic syndrome (aHUS) and HELLP syndrome in the postpartum period.
Article
Medicine, General & Internal
Laura Sarno, Paolo Conca, Alfredo Capuano, Giovanni Tarantino, Domenico Russo, Maurizio Guida
Summary: This case report emphasizes the importance of promptly diagnosing and treating atypical hemolytic uremic syndrome in pregnant patients, as it can be life-threatening and lead to permanent renal failure.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Immunology
Rupesh Raina, Guneive Mangat, Gordon Hong, Raghav Shah, Nikhil Nair, Brian Abboud, Sumedha Bagga, Sidharth Kumar Sethi
Summary: Atypical hemolytic uremic syndrome (aHUS) is an important form of thrombotic microangiopathy (TMA) that often leads to acute kidney injury (AKI). Anti-factor H associated aHUS is a specific subtype of aHUS caused by complement factor H gene deletions and the presence of anti-factor H antibodies. However, not all patients with this subtype have the CFHR1/R3 deletion. Dysregulation of the complement system, particularly the alternative pathway, due to factor H dysfunction can result in inflammatory or autoimmune diseases. Treatment options such as plasma exchange therapy, Eculizumab, and immunosuppressants have shown positive effects in patients with this disease. Further advancements in the diagnosis and management of anti-factor H associated aHUS are needed due to its genetic predisposition.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
I-Ru Chen, Chiu-Ching Huang, Siang-Jyun Tu, Guei-Jane Wang, Ping-Chin Lai, Ya-Ting Lee, Ju-Chen Yen, Ya-Sian Chang, Jan-Gowth Chang
Summary: This single-cell sequencing study confirms the importance of immune cell dysregulation in the pathogenesis of aHUS, providing valuable insights into molecular mechanisms and potential new diagnostic and disease activity markers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Microbiology
Nora Schwotzer, Peter Wahl, Dominique Fracheboud, Emanuel Gautier, Christian Chuard
JOURNAL OF CLINICAL MICROBIOLOGY
(2014)
Article
Peripheral Vascular Disease
Nora Schwotzer, Michel Burnier, Marc Maillard, Pascal Bovet, Fred Paccaud, Murielle Bochud, Gregoire Wuerzner
AMERICAN JOURNAL OF HYPERTENSION
(2019)
Article
Medicine, Research & Experimental
Nora Schwotzer, Giulia Paganetti, Matteo Barchi, Nancy Perrottet, Vincent Aubert, Salima Sadallah, Samuel Rotman, Jean-Pierre Venetz, Maurice Matter, Dela Golshayan, Manuel Pascual
XENOTRANSPLANTATION
(2020)
Article
Urology & Nephrology
Nora Schwotzer, Michiko Kanemitsu, Sebastien Kissling, Roger Darioli, Mohammed Benghezal, Serge Rezzi, Michel Burnier, Menno Pruijm
KIDNEY INTERNATIONAL REPORTS
(2020)
Article
Urology & Nephrology
Nora Schwotzer, Francois Provot, Simon Ville, Laurent Daniel, Awena Le Fur, Sebastien Kissling, Noemie Jourde-Chiche, Alexandre Karras, Anne Moreau, Jean-Francois Augusto, Viviane Gnemmi, Helene Perrochia, Stanislas Bataille, Moglie Le Quintrec, Jean-Michel Goujon, Samuel Rotman, Fadi Fakhouri
Summary: MDS patients are associated with various autoimmune kidney manifestations, with acute tubulo-interstitial nephritis being predominant. MDS should be considered as a potential cause of autoimmune TIN.
KIDNEY INTERNATIONAL REPORTS
(2021)
Letter
Urology & Nephrology
Nora Schwotzer, Sebastien Kissling, Fadi Fakhouri
KIDNEY INTERNATIONAL
(2021)
Letter
Urology & Nephrology
Matthieu Halfon, Nora Schwotzer, Menno Pruijm, Olivier Bonny
KIDNEY INTERNATIONAL REPORTS
(2022)
Review
Urology & Nephrology
Fadi Fakhouri, Nora Schwotzer, Dela Golshayan, Veronique Fremeaux-Bacchi
Summary: The development of complement inhibitors has brought about significant advancements in the field of clinical nephrology, particularly in the treatment of severe kidney diseases such as atypical hemolytic uremic syndrome. The availability of these inhibitors has also opened up new possibilities for managing other kidney diseases where complement activation is involved. However, the rational usage of these costly therapeutic agents is crucial, especially with the increasing number of inhibitors being tested for various indications. This review aims to summarize the current knowledge and gaps regarding complement activation and therapeutic inhibition in kidney diseases, while providing insights for a rational approach to complement modulation.
KIDNEY INTERNATIONAL REPORTS
(2022)
Review
Urology & Nephrology
Fadi Fakhouri, Nora Schwotzer, Gianfranca Cabiddu, Jonathan Barratt, Helene Legardeur, Vesna Garovic, Alejandra Orozco-Guillen, Jack Wetzels, Eric Daugas, Gabriella Moroni, Marina Noris, Vincent Audard, Manuel Praga, Elisa Llurba, Gregoire Wuerzner, Rossella Attini, David Desseauve, Elena Zakharova, Claudio Luders, Kate Wiles, Filomena Leone, Shilpanjali Jesudason, Nathalie Costedoat-Chalumeau, Andrea Kattah, Virgilia Soto-Abraham, Alexandre Karras, Jai Prakash, Liz Lightstone, Pierre Ronco, Claudio Ponticelli, Gerald Appel, Giuseppe Remuzzi, Vassilis Tsatsaris, Giorgina Barbara Piccoli
Summary: Our understanding of pregnancy in women with kidney diseases has improved, but there is little knowledge about specific kidney diseases. Glomerular diseases are a common cause of chronic kidney disease in young women and pose challenges in pregnancy due to immunologic diseases, hypertension, proteinuria, and kidney tissue damage. A review of current literature and expert opinions on glomerular diseases in pregnancy was conducted, providing practical information for nephrologists. This work highlights areas of uncertainty and the need for further collaborative studies to improve maternal and fetal health.
KIDNEY INTERNATIONAL
(2022)
Editorial Material
Urology & Nephrology
Nora Schwotzer, Veronique Fremeaux-Bacchi, Fadi Fakhouri
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Urology & Nephrology
Dela Golshayan, Nora Schwotzer, Fadi Fakhouri, Julien Zuber
Summary: The complement system is important in clearing pathogens and cell debris, but it also plays a key role in pathways leading to allograft injury. New biomarkers are being sought to assess complement activation and guide tailored therapies after kidney transplantation. C5 blockade has had success in managing complement-driven diseases and new drugs targeting the complement amplification loop show promise in treating and preventing recurrence of certain kidney diseases.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)