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J Clin Med 2022 Apr 29;11(9). Epub 2022 Apr 29.

Department of Cardiothoracic Surgery, Maastricht University Medical Center+, 6229 HX Maastricht, The Netherlands.

Postsurgical thrombotic microangiopathy (TMA) is a complication associated with significant morbidity and mortality. Still, the pathophysiological underlying mechanism of postsurgical TMA, a diagnosis often overlooked in postoperative patients with acute kidney injury and thrombocytopenia, is largely unknown. Here, we report the case of a 56-year-old male that developed anuric acute kidney injury, Coombs-negative hemolysis, and thrombocytopenia after surgical aortic arch replacement. Read More

Pediatr Nephrol 2022 May 12. Epub 2022 May 12.

Department of Pediatric Nephrology, Health Science University, Prof. Dr. Cemil Taşçioğlu City Hospital, Darülaceze Cad. No: 27, Sisli, 34384, Turkey.

Background: Liver damage is uncommon in Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome (STEC-HUS). Herein, we present two cases with a diagnosis of STEC-HUS that progressed to liver damage, with findings presumably related to the SERPINB11 gene c.268G > T (p. Read More

Front Med (Lausanne) 2022 25;9:811504. Epub 2022 Apr 25.

Hematopathology Unit, Department of Pathology, Hospital Clínic of Barcelona, Biomedical Diagnosis Centre (CDB), Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.

Thrombotic microangiopathies (TMA) constitute a group of different disorders that have a common underlying mechanism: the endothelial damage. These disorders may exhibit different mechanisms of endothelial injury depending on the pathological trigger. However, over the last decades, the potential role of the complement system (CS) has gained prominence in their pathogenesis. Read More

Rev Esp Anestesiol Reanim (Engl Ed) 2022 May 7. Epub 2022 May 7.

Anestesiología y Reanimación, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.

Atypical uremic haemolytic syndrome is a variant of thrombotic micro-andiopathy characterized by non-autoimmune hemolytic anemia, thrombocytopenia and acute renal failure as a result of excessive activation of the complement. Up to 60% of patients have mutations in the genes that encode the complement system. A disensing factor is required for its manifestation, including gestation. Read More

Blood Adv 2022 May 9. Epub 2022 May 9.

Mayo Clinic, Rochester, Minnesota, United States.

Eculizumab is effective for complement-mediated thrombotic microangiopathy (CM-TMA), also known as atypical hemolytic uremic syndrome. Although lifelong therapy had been suggested, discontinuation does not universally lead to relapse. Comprehensive data evaluating risk factors for recurrence following discontinuation is limited. Read More

Arch Clin Cases 2022 6;9(1):24-28. Epub 2022 Apr 6.

CMH Lahore Medical College, Lahore, Punjab, Pakistan.

We report a case of thrombotic microangiopathy in a postpartum female for which considerable diagnostic uncertainty existed initially regarding the etiology. This case highlights the limitations surrounding PLASMIC scoring criteria for the diagnosis of thrombotic thrombocytopenic purpura (TTP). A 32-year-old woman presented to maternofetal medicine in her third trimester of pregnancy at 32 weeks for a routine follow up and was subsequently found to have elevated blood pressures with proteinuria, and was diagnosed with pre-eclampsia. Read More

Pediatr Nephrol 2022 May 7. Epub 2022 May 7.

Nephrology Department, Hospital de Niños "Superiora Sor María Ludovica", LaPlata, Buenos Aires, Argentina.

Background: Hemolytic uremic syndrome (HUS) is a systemic thrombotic microangiopathy characterized by hemolytic anemia, thrombocytopenia, and variable kidney involvement. Extrarenal thrombotic microangiopathy occurs in central nervous system (CNS), colon, and other organ systems, but ocular involvement is rarely recognized. This study aimed to analyze frequency and severity of ocular involvement in STEC-HUS, and the relationship between ocular involvement and disease severity, with emphasis on CNS, kidney, and colonic disease. Read More

Pediatr Nephrol 2022 May 6. Epub 2022 May 6.

Clementine Kinderhospital, Theobald-Christ-Strasse 16, 60316, Frankfurt am Main, Germany.

Background: Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by systemic thrombotic microangiopathy mainly in the kidneys and mostly due to genetic disorders leading to uncontrolled activation of the complement system. Severe complications of SARS-CoV2 infection are linked to microvascular injury and complement activation is suspected to play a role in the pathogenesis of endothelial cell damage in severe COVID-19.

Methods: We present the first two cases of aHUS triggered by SARS-CoV-2 infection in two unrelated infants with the same mutation in the RNA exosome gene EXOSC3. Read More

Pediatr Nephrol 2022 May 4. Epub 2022 May 4.

APHP, Service de Génétique Moléculaire, Centre de Référence MARHEA, Hôpital Universitaire Necker-Enfants Malades, Institut Imagine, Université Paris Cité, 75015, Paris, France.

Expert Rev Hematol 2022 May 13:1-8. Epub 2022 May 13.

Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.

Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal stem cell disease harvesting a somatic mutation in the phosphatidylinositol glycan class A () gene. This mutation results in a deficiency in cell membrane complement regulators leading to activation of the terminal complement pathway, clinically presenting as hemolytic anemia and thrombosis, and frequently associated with bone marrow failure. This condition was historically managed with supportive care and bone marrow transplant. Read More

Front Pediatr 2022 12;10:850819. Epub 2022 Apr 12.

Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany.

Background: Therapeutic apheresis (TA) is based on the principles of either removing dissolved pathogenic substances (e.g., antibodies) from the blood plasma or replacing plasma factors. Read More

Cureus 2022 Mar 26;14(3):e23525. Epub 2022 Mar 26.

Pulmonary and Critical Care, Icahn School of Medicine at Mount Sinai/BronxCare Health System, New York City, USA.

Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy (TMA) caused by severely reduced ADAMTS13 or the von Willebrand factor-cleaving protease (VWFCP) enzyme resulting in low platelet and red blood cell counts along with severe renal, cardiac, and neurological dysfunction. Plasmapheresis is the treatment of choice. Mitomycin, a widely used chemotherapeutic agent for gastrointestinal (GI) cancers anal and breast cancers, has been reported to occasionally cause severe TTP and hemolytic uremic syndrome (HUS) cases. Read More

Cureus 2022 Mar 28;14(3):e23577. Epub 2022 Mar 28.

Hematology and Oncology, Great Falls Clinic, Great Falls, USA.

Atypical hemolytic uremic syndrome (aHUS) occurs in patients with defective alternative complement pathways, making them susceptible to thrombotic microangiopathy (thrombocytopenia, intravascular hemolysis, and renal failure), and is usually triggered by infectious agents. Influenza and Streptococcus pneumonia are known triggers for aHUS. However, influenza vaccination triggering aHUS is rarely reported. Read More

Front Immunol 2022 12;13:860689. Epub 2022 Apr 12.

Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Paris, France.

As part of the innate immune system, the complement system plays a key role in defense against pathogens and in host cell homeostasis. This enzymatic cascade is rapidly triggered in the presence of activating surfaces. Physiologically, it is tightly regulated on host cells to avoid uncontrolled activation and self-damage. Read More

Blood Res 2022 Apr;57(S1):79-85

Division of Hematology-Oncology, Department of Internal Medicine, Ewha Womans University Mokdong Hospital, Seoul, Korea.

Thrombocytopenia, defined as platelet count ＜150×10/L, is frequently observed by physicians during pregnancy, with an incidence of approximately 10% of all pregnancies. Most of the cases of thrombocytopenia in pregnancy are due to gestational thrombocytopenia, which does not confer an increased risk of maternal bleeding. However, because other causes can be associated with life-threatening events, such as severe bleeding, that can affect to maternal and fetal outcomes, differentiating other cause of thrombocytopenia, which includes preeclampsia, HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome, acute fatty liver of pregnancy, immune thrombocytopenia, hereditary thrombocytopenia, antiphospholipid syndrome, thrombotic thrombocytopenic purpura, and atypical hemolytic uremic syndrome, is important. Read More

J Biol Chem 2022 Apr 19:101962. Epub 2022 Apr 19.

Department of Chemistry and Biotechnology, School of Engineering, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-8656, Japan; Department of Bioengineering, School of Engineering, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8656, Japan; The institute of Medical Science, The University of Tokyo, 4-6-1, Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan. Electronic address:

Atypical hemolytic uremic syndrome (aHUS) is a disease associated with dysregulation of the immune complement system, especially of the alternative pathway (AP). Complement factor H (CFH), consisting of 20 domains called CCP1-20, downregulates the AP as a cofactor for mediating C3 inactivation by complement factor I (CFI). However, anomalies related to CFH are known to cause excessive complement activation and cytotoxicity. Read More

Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med 2022 Mar;30(2):207-210

N. A. Semashko National Research Institute of Public Health, 105064, Moscow, Russia.

Lately, in case of a number of life-threatening and chronic progressive rare (orphan) diseases, resulting in decreasing of life expectancy of citizens or their disability, the powers to support patients with medications were transferred from regional to federal level. Among these diseases are hemolytic uremic syndrome, mucopolysaccharidose type I, II, VI, juvenile arthritis with systemic onset, unspecified aplastic anemia, hereditary deficiency of factors II (fibrinogen), VII (labile), X (Stuart-Prauer). The article considers data concerning hemolytic uremic syndrome, mucopolysaccharidosis type I, II, VI, juvenile arthritis with systemic onset - the diseases for which medication support provision was transferred to Federal level in the first place and for which at the time of preparation of the article there were sufficient data to analyze. Read More

Microb Pathog 2022 May 15;166:105538. Epub 2022 Apr 15.

Department of Microbiology and Immunology - Faculty of Pharmacy, Suez Canal University, Ismailia, Egypt. Electronic address:

Enterohemorrhagic Escherichia coli (EHEC) is a subtype of pathogenic E. coli that causes diarrhea or hemorrhagic colitis in humans, which can progresses to hemolytic uremic syndrome (HUS), a leading cause of acute renal failure in children, and morbidity and mortality in adults. Stool samples (n = 273) of patients (1 day-40 years old) suffered from bloody diarrhea and abdominal cramps, were examined bacteriologically and molecularly for the presence and pathogenicity of EHEC with phylogenetic analysis of the obtained stx1, stx2, and eaeA virulence genes' sequences. Read More

Pediatr Infect Dis J 2022 May;41(5):e255

Department of Paediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong SAR, China.

Nephron 2022 Apr 11:1-6. Epub 2022 Apr 11.

Department of Rare Diseases, Istituto di Ricerche Farmacologiche Mario Negri - IRCCS, Bergamo, Italy.

Hemolytic uremic syndrome (HUS) is a rare disease characterized by hemolytic anemia, thrombocytopenia, and renal impairment mostly triggered by strains of Shiga-like toxin-producing Escherichia coli (STEC-HUS). A rarer form of HUS, defined as atypical HUS (aHUS), is associated with genetic or acquired dysregulation of the alternative pathway of the complement system and presents a poorer prognosis than STEC-HUS. Factor H autoantibodies (anti-FHs) have been reported in aHUS in 5-11% of cases and are strongly associated with the homozygous deletion of CFHR3-CFHR1 genes. Read More

J Mol Diagn 2022 Apr 8. Epub 2022 Apr 8.

Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Core Facility Genomics, Berlin, Germany; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany. Electronic address:

Complement factor H (CFH) and its related proteins have an essential role in regulating the alternative pathway of the complement system. Mutations and structural variants (SVs) of the CFH gene cluster, consisting of CFH and its five related genes (CFHR1-5), have been reported in renal pathologies as well as in complex immune diseases like age-related macular degeneration and systemic lupus erythematosus. SV analysis of this cluster is challenging because of its high degree of sequence homology. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Apr;30(2):636-640

Department of Hematology, Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China,E-mail:

Hemolytic uremic syndrome (HUS) is clinically rare, with high mortality and case fatality rates. In recent years, the research on HUS has been intensified and the pathophysiological mechanism has been continuously improved. At present, the main mechanism of pathogenesis is the excessive activation of complement alternative pathways mediated by complement-related gene mutations or the existence of antibodies. Read More

Microb Genom 2022 Apr;8(4)

Department of Molecular Microbiology and Immunology, University of Texas at San Antonio, San Antonio, TX, USA.

Infections with globally disseminated Shiga toxin-producing (STEC) of the O113:H21 serotype can progress to severe clinical complications, such as hemolytic uremic syndrome (HUS). Two phylogeographically distinct clonal complexes have been established by multi locus sequence typing (MLST). Infections with ST-820 isolates circulating exclusively in Australia have caused severe human disease, such as HUS. Read More

J Bacteriol 2022 Apr 7:e0062021. Epub 2022 Apr 7.

Department of Molecular Genetics, University of Cincinnatigrid.24827.3b College of Medicine, Cincinnati, Ohio, USA.

Enterohemorrhagic Escherichia coli O157:H7 is an enteric pathogen responsible for bloody diarrhea, hemolytic uremic syndrome, and in severe cases, even death. The study of O157:H7 is difficult due to the high specificity of the bacteria for the human intestine, along with our lack of sufficiently complex human cell culture models. The recent development of human intestinal enteroids derived from intestinal crypt multipotent stem cells has allowed us to construct two-dimensional differentiated epithelial monolayers grown in transwells that mimic the human intestine. Read More

Rinsho Ketsueki 2022 ;63(3):224-228

Department of Hematology and Oncology, Mie University Hospital.

Atypical hemolytic uremic syndrome (aHUS) is a lethal disease resulting in systemic thrombotic microangiopathies due to complement dysregulation. Immune activation by viral infections, such as SARS-CoV-2, may trigger hemolytic attack. A 38-year-old man, who had been previously diagnosed with aHUS due to complement component 3 mutation, was proven to be positive for SARS-CoV-2 without respiratory symptoms. Read More

J Bras Nefrol 2022 Apr 4. Epub 2022 Apr 4.

Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Unidade de Nefrologia Pediátrica e Transplante Renal, Departamento de Pediatria, Lisboa, Portugal.

Introduction: A better understanding of hemolytic-uremic syndrome (HUS) pathophysiology significantly changed its treatment and prognosis. The aim of this study is to characterize the clinical features, severity, management, and outcomes of HUS patients.

Materials And Methods: Retrospective study of HUS patients admitted to a Pediatric Nephrology Unit between 1996 and 2020. Read More

Physiol Genomics 2022 May 6;54(5):153-165. Epub 2022 Apr 6.

Department of Pediatrics, Fukushima Medical University School of Medicine, Fukushima, Japan.

Shiga toxin 2 (Stx2) and lipopolysaccharide (LPS) contribute to the development of hemolytic uremic syndrome (HUS). Mouse models of HUS induced by LPS/Stx2 have been used for elucidating HUS pathophysiology and for therapeutic development. However, the underlying molecular mechanisms and detailed injury sites in this model remain unknown. Read More

Front Mol Biosci 2022 23;9:813637. Epub 2022 Feb 23.

Laboratorio de Neurofisiopatología, Instituto de Fisiología y Biofísica "Houssay", CONICET, Universidad de Buenos Aires, Buenos Aires, Argentina.

At first glance, the biological function of globoside (Gb) clusters appears to be that of glycosphingolipid (GSL) receptors for bacterial toxins that mediate host-pathogen interaction. Indeed, certain bacterial toxin families have been evolutionarily arranged so that they can enter eukaryotic cells through GSL receptors. A closer look reveals this molecular arrangement allocated on a variety of eukaryotic cell membranes, with its role revolving around physiological regulation and pathological processes. Read More

Cureus 2022 Feb 26;14(2):e22624. Epub 2022 Feb 26.

Nephrology, Holy Cross Hospital, Fort Lauderdale, USA.

Atypical hemolytic uremic syndrome (HUS) is a part of a large category of diseases known as thrombotic microangiopathies that present with hemolytic anemia, thrombocytopenia, and target organ damage mostly characterized by acute kidney injury. It is a rare and challenging diagnosis due to the complex pathophysiology underlying the disease and its overlap with other conditions. We report the case of atypical hemolytic uremic syndrome in a 61-year-old female with a history of metastatic peritoneal serous carcinoma of the ovary presenting with anemia and acute renal failure. Read More

Crit Care Clin 2022 Apr;38(2):195-211

Center for Critical Care Nephrology, University of Pittsburgh, Pittsburgh, PA 15213, USA; Department of Critical Care Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.

Sepsis is a heterogenous and imprecise syndrome that includes multiple phenotypes, some of which are amenable to specific therapies. Developing new therapies for sepsis will require focusing on subsets of patients. Key to improving care is evaluating patients for sepsis mimics and treatable diseases whose manifestations lead to a clinical classification of sepsis. Read More