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Select item 106518681.

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study

Vicky Brocklebank, Patrick R. Walsh, Kate Smith-Jackson, Thomas M. Hallam, Kevin J. Marchbank, Valerie Wilson, Theophile Bigirumurame, Tina Dutt, Emma K. Montgomery, Michal Malina, Edwin K. S. Wong, Sally Johnson, Neil S. Sheerin, David Kavanagh, NRCTC aHUS Research Consortium

Blood. 2023 Oct 19; 142(16): 1371–1386. Published online 2023 Jun 29. doi: 10.1182/blood.2022018833

PMCID:: PMC10651868

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Select item 102089522.

CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome

Yuka Sugawara, Hideki Kato, Masao Nagasaki, Yoko Yoshida, Madoka Fujisawa, Naoko Minegishi, Masayuki Yamamoto, Masaomi Nangaku

J Hum Genet. 2023; 68(6): 427–430. Published online 2023 Feb 9. doi: 10.1038/s10038-023-01129-1

PMCID:: PMC10208952

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Select item 100437833.

Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria

Hongbo Xiao, Friedhelm Hildebrandt

Pediatr Nephrol. Author manuscript; available in PMC 2023 Mar 28.

Published in final edited form as: Pediatr Nephrol. 2022 Jul; 37(7): 1567–1574. Published online 2021 Nov 11. doi: 10.1007/s00467-021-05312-4

PMCID:: PMC10043783

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Select item 99493744.

An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome

Sara Gastoldi, Sistiana Aiello, Miriam Galbusera, Matteo Breno, Marta Alberti, Elena Bresin, Caterina Mele, Rossella Piras, Lucia Liguori, Donata Santarsiero, Ariela Benigni, Giuseppe Remuzzi, Marina Noris

Front Immunol. 2023; 14: 1112257. Published online 2023 Feb 9. doi: 10.3389/fimmu.2023.1112257

PMCID:: PMC9949374

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Select item 99232325.

CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome

Rossella Piras, Elisabetta Valoti, Marta Alberti, Elena Bresin, Caterina Mele, Matteo Breno, Lucia Liguori, Roberta Donadelli, Miriam Rigoldi, Ariela Benigni, Giuseppe Remuzzi, Marina Noris

Front Immunol. 2022; 13: 1011580. Published online 2023 Jan 30. doi: 10.3389/fimmu.2022.1011580

PMCID:: PMC9923232

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Select item 98810466.

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation

Aldo A. Acosta-Medina, Ann M. Moyer, Ronald S. Go, Maria Alice V. Willrich, Fernando C. Fervenza, Nelson Leung, Christianne Bourlon, Jeffrey L. Winters, Grant M. Spears, Sandra C. Bryant, Meera Sridharan, Mayo Clinic Complement Alternative Pathway-Thrombotic Microangiopathy (CAP-TMA) Disease-Oriented Group

Blood Adv. 2023 Feb 14; 7(3): 340–350. Published online 2022 May 11. doi: 10.1182/bloodadvances.2021006416

PMCID:: PMC9881046

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Select item 92257307.

Clinical features of children with anti-CFH autoantibody-associated hemolytic uremic syndrome: a report of 8 cases

Qian Li, Xinxin Kong, Minle Tian, Jing Wang, Zhenle Yang, Lichun Yu, Suwen Liu, Cong Wang, Xiaoyuan Wang, Shuzhen Sun

Ren Fail. 2022; 44(1): 1061–1069. Published online 2022 Jun 22. doi: 10.1080/0886022X.2022.2089167

PMCID:: PMC9225730

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Select item 91602058.

The Roles of Homocysteinemia and Methylmalonic Acidemia in Kidney Injury in Atypical Hemolytic Uremic Syndrome Caused by Cobalamin C Deficiency

William D. Wood, Ayah Elmaghrabi, Garrett Gotway, Matthias T.F. Wolf

Pediatr Nephrol. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Pediatr Nephrol. 2022 Jun; 37(6): 1415–1418. Published online 2021 Dec 2. doi: 10.1007/s00467-021-05372-6

PMCID:: PMC9160205

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Select item 88204369.

Pregnancy in Women with Atypical Hemolytic Uremic Syndrome

Eric Rondeau, Gianluigi Ardissino, Marie-Pierre Caby-Tosi, Imad Al-Dakkak, Fadi Fakhouri, Benjamin Miller, Marie Scully

Nephron Clin Pract. 2022 Jan; 146(1): 1–10. Published online 2021 Sep 7. doi: 10.1159/000518171

PMCID:: PMC8820436

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Select item 855136510.

Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient

Margarita López-Trascasa, Ángel Alonso-Melgar, Marta Melgosa-Hijosa, Laura Espinosa-Román, María Dolores Lledín-Barbancho, Eugenia García-Fernández, Santiago Rodríguez de Córdoba, Pilar Sánchez-Corral

Front Immunol. 2021; 12: 751093. Published online 2021 Oct 14. doi: 10.3389/fimmu.2021.751093

PMCID:: PMC8551365

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Select item 851337811.

Atypical hemolytic uremic syndrome in the Colombian Caribbean: its particular characteristics

Omar Cabarcas-Barbosa, Gustavo Aroca-Martínez, Carlos G. Musso, Elizabeth Ramos-Bolaños, Henry González-Tórres, Zilac Espitaleta-Vergara, Alex Domínguez-Vargas, Edufamir Ararat-Rodriguez, José Orozco, Luis Castillo-Parodi, Juan Conde-Manotas, Rodrigo Daza-Arnedo, Víctor Rodríguez-SanJuan, Liliana Gómez-Navarro, Roberto Acosta-Madiedo, Luis Barros-Camargo, Angélica Aduen-Carrillo, Francisco Ayola-Anaya, María Pulgar-Emiliani, Andrés Cadena-Bonfanti

Int Urol Nephrol. 2022; 54(6): 1323–1330. Published online 2021 Oct 13. doi: 10.1007/s11255-021-03011-5

PMCID:: PMC8513378

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Select item 826351312.

Eculizumab exposure in children and young adults: indications, practice patterns, and outcomes—a Pediatric Nephrology Research Consortium study

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

Pediatr Nephrol. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Pediatr Nephrol. 2021 Aug; 36(8): 2349–2360. Published online 2021 Mar 10. doi: 10.1007/s00467-021-04965-5

PMCID:: PMC8263513

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Select item 826229313.

Loss of diacylglycerol kinase ε causes thrombotic microangiopathy by impairing endothelial VEGFA signaling

Dingxiao Liu, Qiong Ding, Dao-Fu Dai, Biswajit Padhy, Manasa K. Nayak, Can Li, Madison Purvis, Heng Jin, Chang Shu, Anil K. Chauhan, Chou-Long Huang, Massimo Attanasio

JCI Insight. 2021 May 10; 6(9): e146959. Published online 2021 May 10. doi: 10.1172/jci.insight.146959

PMCID:: PMC8262293

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Select item 821662214.

Inherited Kidney Complement Diseases

Mathieu Lemaire, Damien Noone, Anne-Laure Lapeyraque, Christoph Licht, Véronique Frémeaux-Bacchi

Clin J Am Soc Nephrol. 2021 Jun; 16(6): 942–956. Published online 2021 Jun. doi: 10.2215/CJN.11830720

PMCID:: PMC8216622

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Select item 802495015.

Renal Damage in Recurrent Atypical Hemolytic Uremic Syndrome Associated with C3 p.Ile1157Thr Gene Mutation

Masahiro Okabe, Arisa Kobayashi, Hirokazu Marumoto, Kentaro Koike, Izumi Yamamoto, Tetsuya Kawamura, Nobuo Tsuboi, Takashi Yokoo

Intern Med. 2021 Mar 15; 60(6): 917–922. Published online 2020 Oct 21. doi: 10.2169/internalmedicine.5716-20

PMCID:: PMC8024950

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Select item 794829916.

Outcomes of a clinician-directed protocol for discontinuation of complement inhibition therapy in atypical hemolytic uremic syndrome

Shruti Chaturvedi, Noor Dhaliwal, Sarah Hussain, Kathryn Dane, Harshvardhan Upreti, Evan M. Braunstein, Xuan Yuan, C. John Sperati, Alison R. Moliterno, Robert A. Brodsky

Blood Adv. 2021 Mar 9; 5(5): 1504–1512. Published online 2021 Mar 8. doi: 10.1182/bloodadvances.2020003175

PMCID:: PMC7948299

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Select item 781560417.

Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis

Verena Klämbt, Charlotte Gimpel, Martin Bald, Christopher Gerken, Heiko Billing, Sebastian Loos, Matthias Hansen, Jens König, Tobias Vinke, Carmen Montoya, Bärbel Lange-Sperandio, Martin Kirschstein, Imke Hennies, Martin Pohl, Karsten Häffner

Pediatr Nephrol. 2021; 36(2): 463–471. Published online 2020 Jul 26. doi: 10.1007/s00467-020-04714-0

Correction in:: Pediatr Nephrol. 2021; 36(12): 4015.

PMCID:: PMC7815604

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Select item 744613218.

Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome

Soraya Gholizad-kolveiri, Nakysa Hooman, Rasoul Alizadeh, Rozita Hoseini, Hasan Otukesh, Saeed Talebi, Mansoureh Akouchekian

BMC Med Genet. 2020; 21: 169. Published online 2020 Aug 24. doi: 10.1186/s12881-020-01097-9

PMCID:: PMC7446132

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Select item 724290819.

Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy

Vicky Brocklebank, Gurinder Kumar, Alexander J. Howie, Jayanthi Chandar, David V. Milford, Janet Craze, Jonathan Evans, Eric Finlay, Michael Freundlich, Daniel P. Gale, Carol Inward, Martin Mraz, Caroline Jones, William Wong, Stephen D. Marks, John Connolly, Bronte M. Corner, Kate Smith-Jackson, Patrick R. Walsh, Kevin J. Marchbank, Claire L. Harris, Valerie Wilson, Edwin K.S. Wong, Michal Malina, Sally Johnson, Neil S. Sheerin, David Kavanagh

Kidney Int. 2020 Jun; 97(6): 1260–1274. doi: 10.1016/j.kint.2020.01.045

PMCID:: PMC7242908

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Select item 700330720.

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

Adam P. Levine, Melanie M.Y. Chan, Omid Sadeghi-Alavijeh, Edwin K.S. Wong, H. Terence Cook, Sofie Ashford, Keren Carss, Martin T. Christian, Matthew Hall, Claire Louise Harris, Paul McAlinden, Kevin J. Marchbank, Stephen D. Marks, Heather Maxwell, Karyn Megy, Christopher J. Penkett, Monika Mozere, Kathleen E. Stirrups, Salih Tuna, Julie Wessels, Deborah Whitehorn, MPGN/DDD/C3 Glomerulopathy Rare Disease Group, NIHR BioResource, Sally A. Johnson, Daniel P. Gale

J Am Soc Nephrol. 2020 Feb; 31(2): 365–373. Published online 2020 Jan 9. doi: 10.1681/ASN.2019040433

PMCID:: PMC7003307

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