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)
Review
Medicine, General & Internal
Ali Jandal, Weixiong Zhong, Deepak Gopal, Vanessa Horner, Leah Frater-Rubsam, Arjang Djamali, Gauri Bhutani
Summary: We present a case of a female patient with mixed nephritic-nephrotic syndrome and recurrent pancreatitis. Kidney biopsy revealed crescentic membranoproliferative glomerulonephritis with dominant C3 staining on immunofluorescence. Genetic testing revealed a rare C3 variant and a deletion of CFHR3CFHR1. The case highlights the challenges of treating complement-mediated kidney disease and suggests the existence of a C3G/aHUS overlap syndrome.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES
(2023)
Article
Multidisciplinary Sciences
Julie Haendiges, Karen Jinneman, Narjol Gonzalez-Escalona
Summary: This study compared the performance of sequencing using different library preparation chemistries (Nextera XT and Nextera DNA Prep), and found that Nextera DNA Prep outperformed in sequence quality, assembly quality, and uniformity of genome coverage. Comprehensive detection of virulence genes is essential for assessing virulence potential.
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)
Article
Oncology
Maria Moscvin, Christine Ivy Liacos, Tianzeng Chen, Foteini Theodorakakou, Despina Fotiou, Shahrier Hossain, Sean Rowell, Houry Leblebjian, Eileen Regan, Peter Czarnecki, Filippo Bagnoli, Niccolo' Bolli, Paul Richardson, Helmut G. Rennke, Meletios A. Dimopoulos, Efstathios Kastritis, Giada Bianchi
Summary: This study found that germline mutations in the complement alternative pathway may predispose multiple myeloma patients receiving carfilzomib treatment to thrombotic microangiopathy (TMA). The presence of deletions in complement Factor H genes was found at a higher frequency in MM patients with carfilzomib-associated TMA compared to the general population and matched controls. Screening for complement mutations may be indicated to properly counsel patients about TMA risk with carfilzomib use.
BLOOD CANCER JOURNAL
(2023)
Article
Urology & Nephrology
Manon Martins, Frank Bridoux, Jean Michel Goujon, Marie Sophie Meuleman, David Ribes, Eric Rondeau, Mary -Jane Guerry, Yahsou Delmas, Benedicte Levy, Didier Ducloux, Christine Kandel-Aznar, Awena Le Fur, Cyril Garrouste, Francois Provot, Jean -Baptiste Gibier, Eric Thervet, Patrick Bruneval, Marion Rabant, Alexandre Karras, Marie Agnes Dragon Durey, Veronique Fremeaux-Bacchi, Sophie Chauvet
Summary: Hemolytic uremic syndrome (HUS) with kidney involvement associated with monoclonal gammopathy is a rare condition that severely affects patients' quality of life. The complement system plays a role in the pathogenesis of this disease, but HUS associated with monoclonal gammopathy has distinct characteristics compared to atypical HUS.
AMERICAN JOURNAL OF KIDNEY DISEASES
(2022)
Article
Biology
Natalia Ruiz-Molina, Juliana Parsons, Madeleine Mueller, Sebastian N. W. Hoernstein, Lennard L. Bohlender, Steffen Pumple, Peter F. Zipfel, Karsten Haeffner, Ralf Reski, Eva L. Decker
Summary: Ruiz-Molina et al. have designed a synthetic protein, MFHR13, which acts as a multi-target complement regulator and effectively protects sheep erythrocytes from complement attack. This protein displays high regulatory activity and holds promise as a potential therapeutic for complement-associated diseases.
COMMUNICATIONS BIOLOGY
(2022)
Article
Pediatrics
Carla Galvez, Paola Krall, Alejandro Rojas, Jun Oh, Francisco Cano
Summary: Shiga-toxin-producing Escherichia coli infection (STEC-HUS) usually has a good prognosis, but some cases can develop extra-renal complications. The role of complement in STEC-HUS has become important, and eculizumab has been used in severe cases. This study analyzes a pediatric case of severe STEC-HUS with CFH mutations that responded well to eculizumab.
PEDIATRIC NEPHROLOGY
(2022)
Article
Immunology
Sigridur Sunna Aradottir, Ann-Charlotte Kristoffersson, Lubka T. Roumenina, Anna Bjerre, Pavlos Kashioulis, Runolfur Palsson, Diana Karpman
Summary: The study indicates that FD inhibition can effectively block complement overactivation induced by FB gain-of-function mutations.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Gautier Breville, Ido Zamberg, Salima Sadallah, Caroline Stephan, Belen Ponte, Jorg D. Seebach
Summary: This study describes the potential pathogenic role of Ig4 autoantibodies in complement-mediated thrombotic microangiopathy in a patient with IgG4-related disease. The patient was successfully treated with plasmapheresis, corticosteroids, and cyclophosphamide, achieving remission. The results suggest a link between genetic predispositions such as CFHR1 and CFHR4 gene deletions and the formation of inhibitory anti-Factor H IgG4 antibodies.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Pediatrics
Melissa Muff-Luett, Keia R. Sanderson, Rachel M. Engen, Rima S. Zahr, Scott E. Wenderfer, Cheryl L. Tran, Sheena Sharma, Yi Cai, Susan Ingraham, Erica Winnicki, Donald J. Weaver, Tracy E. Hunley, Stefan G. Kiessling, Meredith Seamon, Robert Woroniecki, Yosuke Miyashita, Nianzhou Xiao, Abiodun A. Omoloja, Sarah J. Kizilbash, Asif Mansuri, Mahmoud Kallash, Yichun Yu, Ashley K. Sherman, Tarak Srivastava, Carla M. Nester
Summary: This study investigated the broader use and outcomes of pediatric patients exposed to eculizumab, revealing a significant number of patients receiving off-label indications for C5 blockade. Although adverse events related to the medication were low, the cohort mortality rate was relatively high. Prospective studies in homogeneous disease cohorts are needed to confirm the role of C5 blockade in kidney outcomes.
PEDIATRIC NEPHROLOGY
(2021)
Article
Immunology
Claudia E. Coipan, Ingrid H. Friesema, Maaike J. C. van den Beld, Thijs Bosch, Sabine Schlager, Menno van der Voort, Christina Frank, Christina Lang, Angelika Fruth, Eelco Franz
Summary: This study describes the recent detection of 3 Shiga toxin-producing enteroaggregative Escherichia coli O104:H4 isolates from patients and 1 from pork in the Netherlands that were genetically highly similar to isolates from the 2011 large-scale outbreak in Europe. Our findings highlight the importance of safeguarding food supply production chains to prevent future outbreaks.
EMERGING INFECTIOUS DISEASES
(2022)
Article
Biochemistry & Molecular Biology
Khadizha M. Emirova, Olga M. Orlova, Ekaterina M. Chichuga, Alexander L. Muzurov, Piotr P. Avdonin, Pavel V. Avdonin
Summary: This study investigates the role of moderate decrease in ADAMTS13 activity in the pathogenesis of STEC-HUS and suggests that reduced ADAMTS13 activity may serve as a predictor of disease severity.
Article
Endocrinology & Metabolism
A. Salpietro, V Sinatra, V Mottola, A. Ceravolo, V Chirico, L. Colavita, G. Ceravolo, E. Gitto, C. Cuppari, R. Chimenz
Summary: HUS is a thrombotic microangiopathy characterized by thrombocytopenia, non-immune microangiopathic hemolytic anemia, and acute kidney injury. It can be classified into typical and atypical types, with common pathogenetic features including damage of endothelial cells, intravascular hemolysis, coagulation abnormalities, and microthrombus formation.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS
(2022)
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
Pediatrics
Vanessa Shaw, Caroline Anderson, An Desloovere, Larry A. Greenbaum, Dieter Haffner, Christina L. Nelms, Fabio Paglialonga, Nonnie Polderman, Leila Qizalbash, Jose Renken-Terhaerdt, Stella Stabouli, Jetta Tuokkola, Johan Vande Walle, Bradley A. Warady, Rukshana Shroff
Summary: Proper nutritional management is crucial for children with chronic kidney disease (CKD) to maintain normal growth and development. Infants with CKD have specific nutritional needs, and inadequate nutrition can lead to growth impairment and abnormal neurodevelopment.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Yifan Zhang, Talia Gutman, Allison Tong, Jonathan C. Craig, Aditi Sinha, Allison Dart, Allison A. Eddy, Debbie S. Gipson, Detlef Bockenhauer, Hui-Kim Yap, Jaap Groothoff, Michael Zappitelli, Nicholas J.A.Webb, Stephen I. Alexander, Susan Furth, Susan Samuel, Tom D. Blydt-Hansen, Janis Dionne, Mini Michael, Scott E. Wenderfer, Wolfgang C. Winkelmayer, Steven McTaggart, Amanda Walker, Cortney T. Zimmerman, Angelique F. Ralph, Angela Ju, Laura J. James, Camilla S. Hanson
Summary: Children with chronic kidney disease and their caregivers face numerous barriers in accessing psychosocial and educational support, leading to feelings of disempowerment and isolation. Improved availability and access to psychosocial and educational interventions are needed to enhance the well-being and educational advancement of these children.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Sheena Visram, Deirdre Leyden, Oceiah Annesley, Dauda Bappa, Neil J. Sebire
Summary: This article investigates the attitudes of children and young people towards the application of Artificial Intelligence (AI) in medicine and healthcare. It found that they were more open to certain applications of AI than others, with a focus on human-centeredness, governance, and trust. The article suggests that educational workshops and practical examples can help address concerns and build trust in AI.
PEDIATRIC RESEARCH
(2023)
Article
Endocrinology & Metabolism
Koenraad Veys, Ward Zadora, Katharina Hohenfellner, Detlef Bockenhauer, Mirian C. H. Janssen, Patrick Niaudet, Aude Servais, Rezan Topaloglu, Martine Besouw, Robert Novo, Dieter Haffner, Nele Kanzelmeyer, Lars Pape, Elke Wuhl, Erik Harms, Atif Awan, Przemyslaw Sikora, Gema Ariceta, Bert van den Heuvel, Elena Levtchenko
Summary: In infantile nephropathic cystinosis, presymptomatic treatment with cysteamine improves the renal outcome, which justifies the inclusion of cystinosis into newborn screening programs.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Transplantation
Mehmet S. Sever, Raymond Vanholder, Valerie Luyckx, Kai-Uwe Eckardt, Mykola Kolesnyk, Andrzej Wiecek, Ewa Pawlowicz-Szlarska, Daniel Gallego, Rukshana Shroff, Andrej Skoberne, Ionut Nistor, Mohamed Sekkarie, Dmytro Ivanov, Edita Noruisiene, Serhan Tuglular
Summary: During conflicts, people with kidney disease may face additional threats due to medical and logistical challenges. Acute kidney injury and treatment interruptions can worsen kidney function, and limitations in dialysis and availability of immunosuppressive medications increase the risk of complications. Local preparedness, adjustments in treatment, telemedicine support, and referrals to higher-level hospitals are important measures to address these challenges.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Pediatrics
Emma Yi Xiu Walker, Timothy Alexander James Lindsay, Jeremy Allgrove, Matko Marlais, Detlef Bockenhauer, Wesley Hayes
Summary: This study retrospectively reviewed a large pediatric cohort with X-linked hypophosphatemia (XLH) treated with burosumab. The results showed that despite maximal dosing, some children did not achieve normal phosphate levels. Therefore, the dosing recommendations for burosumab should consider targeting normalization of alkaline phosphatase instead of plasma phosphate concentration.
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Review
Pediatrics
Mandy Wan, Lillian King, Natasha Baugh, Zainab Arslan, Evelien Snauwaert, Fabio Paglialonga, Rukshana Shroff
Summary: Functional constipation is a common problem in healthy children, and it poses even more risks for children with chronic kidney disease (CKD) and on dialysis. Constipation can have negative effects on catheter function and ultrafiltration in children on peritoneal dialysis. There may be a bidirectional relationship between constipation and CKD, with gut dysbiosis potentially playing a role. However, there is limited data on the safety and effectiveness of constipation treatments in patients with CKD.
PEDIATRIC NEPHROLOGY
(2023)
Review
Pediatrics
Evelien Snauwaert, Fabio Paglialonga, Johan Vande Walle, Mandy Wan, An Desloovere, Nonnie Polderman, Jose Renken-Terhaerdt, Vanessa Shaw, Rukshana Shroff
Summary: Dietary fiber is an essential part of a healthy child's diet, and children with adequate fiber intake have higher diet quality and nutrient density. However, many children, especially those with kidney diseases, do not meet the recommended fiber intake. Recent studies suggest that dietary fiber is important for children with kidney diseases, as it provides various health benefits and does not increase the risk of hyperkalemia or nutritional deficits. New studies and guidelines are needed to address dietary fiber intake in these children.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Savitha Shenoy, Detlef Bockenhauer
Summary: In rare cases, hypernatraemia may be caused by salt poisoning instead of dehydration, making it difficult to diagnose. Currently, there is no accepted cut-off value to distinguish between dehydration and salt poisoning, resulting in differing opinions on the diagnosis. It is important to address this challenge and improve the assessment tools for hypernatraemia.
Article
Genetics & Heredity
Fevronia Kiparissi, Antonia Dastamani, Liina Palm, Aline Azabdaftari, Luis Campos, Edward Gaynor, Stephanie Grunewald, Holm H. Uhlig, Robert Kleta, Detlef Boeckenhauer, Kelsey D. J. Jones
Summary: This article describes three cases of PMM2-HIPKD patients developing IBD, with onset at ages 0, 6, and 10. The development of IBD is associated with intestinal inflammation and the unusual finding of gastric antral foveolar hyperplasia. The severity of IBD varies but is well controlled with conventional and first-line biologic treatment approaches.
Article
Endocrinology & Metabolism
Rebecca Jane Moon, Maisara Soliman, Lieke Hoogenboom, Rodney D. Gilbert, Georgina Bird-Lieberman, Jaspal Singh, Detlef Bockenhauer, Anitha Kumaran
Summary: This article describes a case of a 6-week-old infant presenting with seizures and life-threatening hyponatremia. A hypothalamic hamartoma (HH) was identified on magnetic resonance imaging. Clinical examination and biochemistry were consistent with the syndrome of inappropriate secretion of anti-diuretic hormone (SIADH). Successful management of hyponatremia was achieved using tolvaptan.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2023)
Article
Developmental Biology
Nada Mufti, Joanna Chappell, Patrick O'Brien, George Attilakos, Hassna Irzan, Magda Sokolska, Priya Narayanan, Trevor Gaunt, Paul D. Humphries, Premal Patel, Elspeth Whitby, Eric Jauniaux, J. Ciaran Hutchinson, Neil J. Sebire, David Atkinson, Giles Kendall, Sebastien Ourselin, Tom Vercauteren, Anna L. David, Andrew Melbourne
Summary: The study investigates the use of super-resolution reconstruction (SRR) MRI to improve placental assessment and predict adverse maternal outcomes. The results show that SRR imaging and paired imaging can enhance the detection of pathological MRI markers, aiding in surgical planning.
Meeting Abstract
Pediatrics
Koenraad Veys, Katharina Hohenfellner, Detlef Bockenhauer, Patrick Niaudet, Rezan Topaloglu, Martine Besouw, Robert Novo, Dieter Haffner, Lars Pape, Elke Wuehl, Erik Harms, Atif Awan, Przemyslaw Sikora, Gema Ariceta, Elena Levtchenko
PEDIATRIC NEPHROLOGY
(2023)
Article
Medicine, Research & Experimental
Rebecca Spencer, Kasia Maksym, Kurt Hecher, Karel Marsal, Francesc Figueras, Gareth Ambler, Harry Whitwell, Nuno Rocha Nene, Neil J. Sebire, Stefan R. Hansson, Anke Diemert, Jana Brodszki, Eduard Gratacos, Yuval Ginsberg, Tal Weissbach, Donald M. Peebles, Ian Zachary, Neil Marlow, Angela Huertas-Ceballos, Anna L. David
Summary: This study investigates the use of maternal serum protein and ultrasound measurements to predict outcomes in pregnancies affected by severe, early-onset fetal growth restriction (FGR). The results demonstrate that ultrasound measurements and maternal serum PlGF concentration can predict important pregnancy outcomes for patients and clinicians.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Urology & Nephrology
Steven D. Podos, Howard Trachtman, Gerald B. Appel, Andrew S. Bomback, Bradley P. Dixon, Jack F. M. Wetzels, H. Terence Cook, Samir V. Parikh, Matthew C. Pickering, James Tumlin, Craig B. Langman, Liz Lightstone, C. John Sperati, Erica Daina, Koenraad Peter Bouman, Kara Rice, Jane A. Thanassi, Mingjun Huang, Carla Nester, Giuseppe Remuzzi
Summary: This study investigated biomarkers in patients with C3G and found associations between complement biomarkers, kidney function, and kidney histology. These findings are important for understanding C3G and characterizing patients with this heterogeneous disease.
AMERICAN JOURNAL OF NEPHROLOGY
(2023)