Read by QxMD icon Read

Atypical Hemolytic–Uremic Syndrome

Christina M Abrams, Diego R Hijano, Bindiya Bagga
No abstract text is available yet for this article.
2018: Global Pediatric Health
Chia Wei Teoh, Kathleen Mary Gorman, Bryan Lynch, Timothy H J Goodship, Niamh Marie Dolan, Mary Waldron, Michael Riordan, Atif Awan
Atypical hemolytic uremic syndrome (aHUS) is caused by dysregulation of the complement system. A humanised anti-C5 monoclonal antibody (eculizumab) is available for the treatment of aHUS. We present the first description of atypical HUS in a child with a coexistent diagnosis of a POL-III leukodystrophy. On standard eculizumab dosing regime, there was evidence of ongoing C5 cleavage and clinical relapses when immunologically challenged. Eculizumab is an effective therapy for aHUS, but the recommended doses may not be adequate for all patients, highlighting the need for ongoing efforts to develop a strategy for monitoring of treatment efficacy and potential individualisation of therapy...
2018: Case Reports in Nephrology
Nilgun Çakar, Z Birsin Ozcakar, Fatih Ozaltin, Mustafa Koyun, Banu Celikel Acar, Elif Bahat, Bora Gulhan, Emine Korkmaz, Ayşe Yurt, Songül Yılmaz, Oğuz Soylemezoglu, Fatoş Yalcinkaya
BACKGROUND: There are limited data on infants with atypical hemolytic uremic syndrome (aHUS). The aim of this study was to determine the clinical and laboratory features, and to evaluate treatment modalities and outcomes in infants with aHUS. MATERIALS AND METHODS: Relevant data on patients with onset of aHUS at age <2 years were obtained from the Turkish Pediatric aHUS Registry. RESULTS: Among the 146 patients included in the Registry, 53 (36%) (23 male and 30 female) were enrolled for the study...
March 13, 2018: Nephron
M Kobrzynski, B Wile, S S Huang, G Filler
Eculizumab is the therapy of choice for patients with atypical hemolytic uremic syndrome (aHUS). Dosing recommendations stem from two trials: one retrospective trial (19 children and 5 infants) and one prospective trial (22 patients and 5 infants). This case report highlights the need for more precise dosing recommendations in children, particularly in infants, and for smaller vials of the medication to facilitate more precise dosing. Such changes would ensure that adverse events are minimized and that the children with aHUS who are treated with eculizumab experience an optimal clinical response...
January 2018: Indian Journal of Nephrology
Chisa Fukasawa, Saori Ooishi, Takuma Kumagai, Megumi Koshiisi, Yuki Sueki, Kei Nakajima, Toru Mitsumori, Yoko Yoshida, Hideki Kato, Masaomi Nangaku, Toshiyuki Miyata, Keita Kirito
Herein, we present an elderly onset case of aHUS successfully treated with eculizumab. An 80-year-old woman with severe anemia, thrombocytopenia, and acute renal dysfunction was admitted to our hospital. A laboratory test revealed steep elevation in the LDH level, and the peripheral blood smear showed erythrocyte fragmentations. Accordingly, we diagnosed thrombotic microangiopathy, and treatment with plasma exchange was immediately initiated. In addition, she required hemodialysis because of rapid impairment of the renal function...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Motohiko Okano, Takeshi Matsumoto, Yoshiki Nakamori, Kazuko Ino, Kana Miyazaki, Atsushi Fujieda, Yuka Sugimoto, Isao Tawara, Motoko Yamaguchi, Kohshi Ohishi, Hiroshi Miwa, Masahiro Masuya, Hideo Wada, Naoyuki Katayama
A 23-year-old man from Mie Prefecture, Japan, with past and family history of hematuria was diagnosed with influenza A and admitted to our hospital on the following day because of hemoglobinuria. He was diagnosed with thrombotic microangiopathy and was suspected of having atypical hemolytic uremic syndrome (aHUS). C3 p.I1157T missense mutation, which we had previously reported in eight aHUS patients from six families in Mie Prefecture, was identified. The laboratory findings and symptoms of our patient promptly improved after administering eculizumab...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Madoka Fujisawa, Hideki Kato, Yoko Yoshida, Tomoko Usui, Munenori Takata, Mika Fujimoto, Hideo Wada, Yumiko Uchida, Koichi Kokame, Masanori Matsumoto, Yoshihiro Fujimura, Toshiyuki Miyata, Masaomi Nangaku
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is caused by complement overactivation, and its presentation and prognosis differ according to the underlying molecular defects. The aim of this study was to characterize the genetic backgrounds of aHUS patients in Japan and to elucidate the associations between their genetic backgrounds, clinical findings, and outcomes. METHODS: We conducted a nationwide epidemiological survey of clinically diagnosed aHUS patients and examined 118 patients enrolled from 1998 to 2016 in Japan...
March 6, 2018: Clinical and Experimental Nephrology
Amy J Osborne, Matteo Breno, Nicolo Ghiringhelli Borsa, Fengxiao Bu, Véronique Frémeaux-Bacchi, Daniel P Gale, Lambertus P van den Heuvel, David Kavanagh, Marina Noris, Sheila Pinto, Pavithra M Rallapalli, Giuseppe Remuzzi, Santiago Rodríguez de Cordoba, Angela Ruiz, Richard J H Smith, Paula Vieira-Martins, Elena Volokhina, Valerie Wilson, Timothy H J Goodship, Stephen J Perkins
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated with dysregulation and overactivation of the complement alternative pathway. Typically, gene analysis for aHUS and C3G is undertaken in small patient numbers, yet it is unclear which genes most frequently predispose to aHUS or C3G. Accordingly, we performed a six-center analysis of 610 rare genetic variants in 13 mostly complement genes ( CFH , CFI , CD46 , C3 , CFB , CFHR1 , CFHR3 , CFHR4 , CFHR5 , CFP , PLG , DGKE , and THBD ) from >3500 patients with aHUS and C3G...
March 2, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
Lauren J Lee, Kristine J Roland, Gayatri M Sreenivasan, Leslie N Zypchen, Kimberley L S Ambler, Paul R Yenson
Solvent detergent-treated plasma (SDP) is a pathogen-inactivated blood plasma, which in comparison to frozen plasma is associated with lower rates of allergic reaction, transfusion-associated lung injury, and viral transmission. SDP has been available in Canada since 2012. Data on SDP use in Canada remains limited. We present a review of subjects receiving SDP at a large tertiary care centre primarily for thrombotic thrombocytopenic purpura and atypical hemolytic uremic syndrome, demonstrating the tolerability and safety of SDP...
February 15, 2018: Transfusion and Apheresis Science
Bahadur Singh Gurjar, T Manikanta Sriharsha, Angika Bhasym, Savit Prabhu, Mamta Puraswani, Priyanka Khandelwal, Himanshi Saini, Savita Saini, Anita Kamra Verma, Priyadarshini Chatterjee, Prasenjit Gucchait, Vineeta Bal, Anna George, Satyajit Rath, Arvind Sahu, Amita Sharma, Pankaj Hari, Aditi Sinha, Arvind Bagga
We previously reported that Indian pediatric patients of atypical hemolytic-uremic syndrome (aHUS) showed high frequencies of anti-complement factor H (FH) autoantibodies that are correlated with homozygous deletion of the genes for FH-related proteins 1 and 3 (FHR1 and FHR3) (FHR1/3-/-). We now report that Indian pediatric aHUS patients without anti-FH autoantibodies also showed modestly higher frequencies of the FHR1/3-/- genotype. Further, when we characterized epitope specificities and binding avidities of anti-FH autoantibodies in aHUS patients, most anti-FH autoantibodies were directed towards the FH cell-surface anchoring polyanionic binding site-containing C-terminal short conservative regions (SCRs) 17-20 with higher binding avidities than for native FH...
February 27, 2018: Immunology
Astrid J F Thielen, Iris M van Baarsen, Marlieke L Jongsma, Sacha Zeerleder, Robbert M Spaapen, Diana Wouters
BACKGROUND: To prevent unwanted complement activation and subsequent damage, complement activation must be tightly regulated on healthy host cells. Dysregulation of the complement system contributes to the pathology of diseases like Paroxysmal Nocturnal Hemoglobinuria and atypical Hemolytic Uremic Syndrome. To investigate complement regulator deficiencies, primary patient cells may be used, but access to patient cells may be limited and cells are heterogeneous between different patients...
February 12, 2018: Journal of Immunological Methods
Masafumi Ono, Naro Ohashi, Akio Namikawa, Naoko Katahashi, Sayaka Ishigaki, Naoko Tsuji, Shinsuke Isobe, Takamasa Iwakura, Yukitoshi Sakao, Takayuki Tsuji, Akihiko Kato, Yoshihide Fujigaki, Akira Shimizu, Hideo Yasuda
A 31-year-old woman was admitted to our hospital for thrombotic microangiopathy (TMA). She was diagnosed with systemic lupus erythematosus (SLE) and class V lupus nephritis. She had no aggravated SLE activity, Shiga toxin positivity, ADAMTS13 abnormality, or other causes of secondary TMA. Plasma exchange partially improved TMA, and eculizumab was introduced for suspected atypical hemolytic uremic syndrome (aHUS), as eculizumab was effective in suppressing the TMA activity. A kidney biopsy revealed diffusely organized crescents (pseudotubulization) with glomerular and arteriolar endothelial injury and subepithelial immune deposits...
February 9, 2018: Internal Medicine
S Mota, C Filipe, A L Almeida
INTRODUCTION AND OBJECTIVES: Thrombotic thrombocytopenic purpura and atypical haemolytic uremic syndrome (aHUS) are acute, rare, life-threatening thrombotic microangiopathies that require swift management. We report a case of acute microangiopathic haemolytic anaemia (MAHA) presenting in perioperative setting. CLINICAL CASE: After hepatic pericystectomy for hydatid cyst, a 46-year-old female developed MAHA, thrombocytopenia and acute renal failure in the immediate postoperative period...
February 6, 2018: Revista Española de Anestesiología y Reanimación
Srikanth Nagalla, Ravindra Sarode
There are numerous congenital and acquired causes of thrombocytopenia. Thrombocytopenia could be a result of decreased bone marrow production, increased consumption, increased destruction, splenic sequestration or a combination of these causes. In this review, we have focused on some of the serious acquired causes of thrombocytopenia. There have been some significant advances in our understanding of the pathophysiology, diagnostic testing, and treatment of immune thrombocytopenia, heparin-induced thrombocytopenia, thrombotic thrombocytopenic purpura, and atypical hemolytic uremic syndrome over the past five years...
2018: F1000Research
Neetika Garg, Yuzhou Zhang, Anne Nicholson-Weller, Eliyahu V Khankin, Nicolò Ghiringhelli Borsa, Nicole C Meyer, Susan McDermott, Isaac E Stillman, Helmut G Rennke, Richard J Smith, Martha Pavlakis
Background: C3 glomerulonephritis (C3GN) is caused by alternate complement pathway over-activation. It frequently progresses to end-stage renal disease, recurs in two-thirds of transplants and in half of these cases progresses to allograft loss. There is currently no proven treatment for C3GN. Case Presentation: We describe a family segregating pathogenic alleles of complement factor H and I (CFH and CFI). The only member carrying both mutations developed C3GN. Prolonged delayed graft function after deceased donor transplantation, heavy proteinuria and isolated C3 hypocomplementemia prompted an allograft biopsy confirming diagnosis of recurrent C3GN...
January 23, 2018: Nephrology, Dialysis, Transplantation
Valter Romão de Souza, Ana Beatriz Cavalcante de Oliveira, Ana Maria Vanderlei, Amanda Queiroz da Mota Silveira Aroucha, Bruna Pontes Duarte, Aureli Nunes Machado, Lívia Netto Chaer, Cláudia Wanderley de Barros Correia, Maria da Conceição de Barros Correia, Manuela Freire Hazin Costa
BACKGROUND: Thrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. The deficiency in ADAMTS13 metalloprotease, which cleaves the von Willebrand factor, may be congenital or acquired. The congenital form is caused by inherited mutations in the ADAMTS13 gene. The diagnosis is challenging due to the nonspecific signs and symptoms, as well as the rarity of the disease...
January 22, 2018: Journal of Medical Case Reports
Johanna A Kremer Hovinga, Silvan R Heeb, Magdalena Skowronska, Monica Schaller
Thrombotic microangiopathies are rare disorders characterized by the concomitant occurrence of severe thrombocytopenia, microangiopathic hemolytic anemia, and a variable degree of ischemic end organ damage. The latter particularly affects the brain, the heart and the kidneys. The primary forms, thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS), although in their clinical presentation often overlapping, have distinctive pathophysiologies. TTP is the consequence of a severe ADAMTS13 deficiency, immune-mediated due to circulating autoantibodies (iTTP), or caused by mutations in the ADAMTS13 gene (cTTP)...
January 22, 2018: Journal of Thrombosis and Haemostasis: JTH
Akira Ashida, Hideki Matsumura, Toshihiro Sawai, Rika Fujimaru, Yuko Fujii, Akihiko Shirasu, Hyogo Nakakura, Kazumoto Iijima
BACKGROUND: Thrombotic microangiopathy (TMA) includes hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP). This study examined the epidemiological characteristics of pediatric patients with TMA classified according to etiology. METHODS: The survey evaluated 258 Japanese pediatric patients diagnosed with TMA between 2012 and 2015. RESULTS: The primary diseases responsible for TMA were categorized as TTP (15 cases), Shiga toxin-producing Escherichia coli-associated HUS (STEC-HUS) (166 cases), atypical HUS (aHUS) (40 cases), and secondary TMA (27 cases)...
January 19, 2018: Clinical and Experimental Nephrology
Stefan Michelfelder, Friedericke Fischer, Astrid Wäldin, Kim V Hörle, Martin Pohl, Juliana Parsons, Ralf Reski, Eva L Decker, Peter F Zipfel, Christine Skerka, Karsten Häffner
The complement system is essential for host defense, but uncontrolled complement system activation leads to severe, mostly renal pathologies, such as atypical hemolytic uremic syndrome or C3 glomerulopathy. Here, we investigated a novel combinational approach to modulate complement activation by targeting C3 and the terminal pathway simultaneously. The synthetic fusion protein MFHR1 links the regulatory domains of complement factor H (FH) with the C5 convertase/C5b-9 inhibitory fragment of the FH-related protein 1...
January 15, 2018: Journal of the American Society of Nephrology: JASN
Salim Baghli, Catherine Abendroth, Umar Farooq, Jennifer A Schaub
The cause of acute kidney injury during pregnancy and in the postpartum period can be particularly challenging to diagnose, especially when it is necessary to differentiate among preeclampsia; eclampsia; hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome; and thrombotic microangiopathies (TMAs). All these disease entities can present with kidney failure, microangiopathic hemolytic anemia, and thrombocytopenia. We present a teaching case of atypical hemolytic uremic syndrome in the postpartum period in a young woman who was found to have mutations of uncertain clinical significance in the complement cascade, including in C3, CFH, and CFI...
January 10, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"