Uma doença genética rara que causa a formação de coágulos nos pequenos vasos sanguíneos. Ela é provocada por um desequilíbrio na via alternativa do sistema complemento (uma parte do sistema de defesa do corpo) e se manifesta por três problemas principais: anemia (causada pela destruição dos glóbulos vermelhos), baixa contagem de plaquetas e mau funcionamento súbito dos rins.
Introdução
O que você precisa saber de cara
A síndrome hemolítico-urêmica atípica é uma doença que afeta principalmente a função renal. Essa condição, que pode ocorrer em qualquer idade, provoca a formação de coágulos sanguíneos anormais (trombos) nos pequenos vasos sanguíneos dos rins. Esses coágulos podem causar problemas médicos graves se restringirem ou bloquearem o fluxo sanguíneo. A síndrome hemolítico-urêmica atípica é caracterizada por três principais manifestações relacionadas à coagulação anormal: anemia hemolítica, trombocitopenia e insuficiência renal.
A anemia hemolítica ocorre quando os glóbulos vermelhos se degradam (são submetidos à hemólise) prematuramente. Na síndrome hemolítico-urêmica atípica, os glóbulos vermelhos podem se romper ao passar pelos coágulos nos pequenos vasos sanguíneos. A anemia resulta se essas células são destruídas mais rapidamente do que o corpo pode repô-las. A anemia pode levar a pele incomumente pálida (palidez), amarelamento dos olhos e da pele (icterícia), fadiga, falta de ar e frequência cardíaca acelerada.
A trombocitopenia é um nível reduzido de plaquetas circulantes, que são células que normalmente auxiliam na coagulação sanguínea. Em pessoas com a síndrome hemolítico-urêmica atípica, há menos plaquetas disponíveis na corrente sanguínea porque um grande número de plaquetas é usado para formar coágulos anormais. A trombocitopenia pode causar hematomas fáceis e sangramentos anormais.
Como resultado da formação de coágulos nos pequenos vasos sanguíneos, pessoas com a síndrome hemolítico-urêmica atípica apresentam dano renal e insuficiência renal aguda que levam à doença renal em estágio terminal (ESRD) em cerca de metade de todos os casos. Essas complicações que ameaçam a vida impedem que os rins filtrem fluidos e resíduos do corpo de forma eficaz.
A síndrome hemolítico-urêmica atípica deve ser distinguida de uma condição mais comum chamada síndrome hemolítico-urêmica típica. Os dois distúrbios têm causas diferentes e sinais e sintomas diferentes. Ao contrário da forma atípica, a forma típica é causada por infecção com certas cepas da bactéria Escherichia coli que produzem substâncias tóxicas chamadas toxinas semelhantes à Shiga. A forma típica é caracterizada por diarreia grave e geralmente afeta crianças com menos de 10 anos. A forma típica tem menor probabilidade, em comparação com a forma atípica, de envolver ataques recorrentes de dano renal que conduzem à ESRD.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoUma doença genética rara que causa a formação de coágulos nos pequenos vasos sanguíneos. Ela é provocada por um desequilíbrio na via alternativa do sistema complemento (uma parte do sistema de defesa do corpo) e se manifesta por três problemas principais: anemia (causada pela destruição dos glóbulos vermelhos), baixa contagem de plaquetas e mau funcionamento súbito dos rins.
O que está sendo pesquisado
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
7 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Curadoria gene-doença
fontes oficiaisThrombophilia due to thrombomodulin defect
A hemostatic disorder characterized by a tendency to thrombosis.
Complement component 3 deficiency
A rare defect of the complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic rashes, lupus-like syndrome and membranoproliferative glomerulonephritis.
Hemolytic uremic syndrome, atypical, 2
An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
Nephrotic syndrome 7
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis.
Basal laminar drusen
Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss.
Macular degeneration, age-related, 14
A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Hemolytic uremic syndrome, atypical, 3
An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
Medicamentos e terapias
Mecanismo: Complement C5 inhibitor
Mecanismo: Mannan-binding lectin serine protease 2 inhibitor
Mecanismo: Complement factor B inhibitor
Mecanismo: Complement C5 inhibitor
Mecanismo: Complement C5 inhibitor
Mecanismo: Complement C5 mRNA RNAi inhibitor
Mecanismo: C5a anaphylatoxin chemotactic receptor antagonist
Variantes genéticas (ClinVar)
572 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1.989 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
13 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome hemolítico urêmico forma atípica
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 23 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
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Outros ensaios clínicos
68 ensaios clínicos encontrados, 18 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.421
[Clinical efficacy and safety of eculizumab in pediatric atypical hemolytic uremic syndrome].
Objective: To evaluate the efficacy and safety of eculizumab (ECZ) in pediatric atypical hemolytic uremic syndrome (aHUS). Methods: A single-center retrospective study was conducted on 11 children with aHUS who received ECZ therapy in the Department of Nephrology, Children's Hospital of Fudan University, between December 2022 and February 2025. The clinical data, including genetic testing results, were collected for analyzing hematological and renal remission, prognosis and adverse events. Results: Among the 11 patients, 6 were male and 5 were female, with age at onset of 2.83 (0.55, 5.75) years. Eight patients had newly diagnosed aHUS, and 3 had relapsed disease. The pathogenic genetic variants were identified in 3 patients. Before ECZ treatment, 8 children required dialysis, including 2 with chronic dialysis. The age at first ECZ administration was 5.03 (0.72, 11.39) years, and the follow-up duration was (15±9) months. All 11 patients achieved complete thrombotic microangiopathy remission, with a time to remission of (36±23) d. In the 11 patients, the estimated glomerular filtration rate at the final follow-up increased by 46 (31, 62) ml/(min·1.73 m2) compared with baseline. The time to achieve normalization of serum creatinine or a ≥25% reduction was 10.0 (5.5, 31.5) d. Plasma exchange or plasma infusion was discontinued in all patients. The 8 patients who required dialysis at baseline successfully discontinued dialysis, and no new dialysis cases occurred. Six patients with negative genetic testing discontinued ECZ without relapse during follow-up. ECZ was well tolerated, with no meningococcal infections reported. Two patients with elevated liver enzymes recovered fully. Conclusions: ECZ demonstrates favorable efficacy and tolerability in pediatric aHUS. The application of ECZ may contribute to improve the prognosis of aHUS. 目的： 探讨依库珠单抗（ECZ）治疗儿童非典型溶血尿毒综合征（aHUS）的疗效和安全性。 方法： 病例系列研究，收集2022年12月至2025年2月在复旦大学附属儿科医院肾内科应用ECZ治疗的11例aHUS患儿临床资料包括基因诊断，分析其血液学、肾脏缓解情况以及预后和不良反应。 结果： 11例患儿中，男6例、女5例，起病年龄2.83（0.55，5.75）岁；8例为新发病例，3例为复发病例；3例检出aHUS相关基因变异。ECZ治疗前有8例患儿需行透析治疗，其中2例为长期透析患儿。首剂ECZ治疗年龄为5.03（0.72，11.39）岁，随访时间（15±9）个月。ECZ治疗后，11例患儿均达到血栓性微血管病完全缓解，达到时间（36±23）d。11例患儿末次随访估算肾小球滤过率较基线上升了46（31，62）ml/（min·1.73 m2）；达到血肌酐正常或下降≥25%的时间为10.0（5.5，31.5）d。所有患儿均停止血浆置换或血浆输注；基线时需要透析的8例患儿均成功停止透析，无新增透析患儿。6例基因检测阴性患儿已停用ECZ，无复发病例。ECZ耐受性良好，没有发生脑膜炎球菌感染；2例肝酶升高患儿均恢复正常。 结论： ECZ对儿童aHUS具有良好的疗效和耐受性。应用ECZ有助于改善aHUS预后。.
Treatment of atypical hemolytic uremic syndrome and C3 glomerulopathy in mice by hepatic expression of factor D.
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are diseases driven by dysregulation of the alternative pathway (AP) complement. Current treatments of these diseases involve the use of frequent and often large doses of monoclonal antibodies, peptide inhibitors, or chemical inhibitors of complement proteins, with various limitations. In this study, we describe ectopic expression of factor D (FD) in the liver as a potential novel therapy for these indications. Unlike most plasma complement proteins, which are synthesized in the liver, FD, a serine protease in the AP, is synthesized primarily in fat tissues. Newly synthesized FD is released largely as an inactive proenzyme that requires activation by mannose-binding lectin-associated serine protease 3 (MASP3) to form the mature enzyme. We found serendipitously that ectopic expression of mature FD, but not pro-FD, in the mouse liver led to C3-dependent depletion of plasma factor B (FB) and abolished AP complement activity. Coexpression of C3, FB, and mature FD in cultured Hepa1-6 cells caused intracellular FB activation and consumption, probably within the secretory vesicles where all 3 proteins may colocalize. Hepatic FD-mediated local FB activation and depletion effectively prevented disease development in murine models of aHUS and C3G. Our results suggest that segregated tissue production of FD, FB, and C3, as well as FD regulation by MASP3, is necessary to prevent in situ FB activation and depletion. Ectopic expression of mature FD in the liver is an effective way to inhibit FB expression and AP complement activity, with potential therapeutic applications in diseases such as aHUS and C3G.
Updates in atypical hemolytic syndrome.
This review aims to summarize how scientific advances in complement biology have not only improved the diagnosis and management of aHUS but also continue to offer insights into the pathophysiology of complement-mediated disease that may be leveraged for future therapeutic developments. Updated information on the clinical and epidemiological features, pathophysiology, diagnosis, management, and potential for future therapeutic advancements in the treatment of aHUS are reviewed. aHUS is a rare but potentially life-threatening disease that requires prompt diagnosis and treatment as well as long-term management via a multidisciplinary team providing coordination of primary and specialty care as well as outreach and education for children and families affected by this life-long disease.
Postpartum thrombotic microangiopathy with elevated liver enzymes: Distinguishing postpartum HELLP syndrome from atypical hemolytic uremic syndrome.
Recurrent pancreatitis and atypical hemolytic uremic syndrome (aHUS): an unusual presentation in childhood.
Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy characterized by the classical triad of acute hemolytic anemia, thrombocytopenia, and kidney impairment. We report a 10-year-old boy with acute pancreatitis presenting simultaneously with atypical HUS (aHUS) with two such episodes occurring 1 year apart. The child presented with abdominal pain, vomiting, oliguria, epigastric tenderness, and had a right undescended testis. During the initial episode, anti-factor H antibodies were mildly elevated while they were normal in the subsequent episode with normal complement components. Whole exome sequencing identified a heterozygous pathogenic CFTR variant, predisposing to recurrent pancreatitis and cryptorchidism, as well as a probable heterozygous CFHR1/CFHR3 deletion, the gene responsible for recurrent aHUS. Treatment of pancreatitis, hemodialysis, and plasma infusions led to complete recovery of acute kidney injury (AKI) and HUS on both occasions.
Publicações recentes
A case report on the effective and safe use of ravulizumab in atypical hemolytic uremic syndrome during pregnancy.
[Clinical analysis of eculizumab in the treatment of atypical hemolytic uremic syndrome in children].
New Anticomplement Drugs in Nephrology - Mechanism and Indication.
Defining "Dominance" in Atypical Hemolytic Uremic Syndrome: Distinguishing Amplification From Initiation.
📚 EuropePMC1.033 artigos no totalmostrando 197
Early recognition of atypical hemolytic uremic syndrome to prevent irreversible kidney injury: cardiac failure and refractory hypertension as critical clues in young patients.
CEN case reportsRecurrent pancreatitis and atypical hemolytic uremic syndrome (aHUS): an unusual presentation in childhood.
Pediatric nephrology (Berlin, Germany)Erythrodermic psoriasis complicated by immune complex-mediated crescentic glomerulonephritis and atypical hemolytic uremic syndrome: a case report.
BMC nephrologyComprehensive gene profiling by Next-Generation sequencing in a cohort of Egyptian pediatric Atypical HUS.
Journal, genetic engineering & biotechnologyComparison between effectiveness and safety of plasma therapy and complement inhibitors for the treatment of atypical hemolytic uremic syndrome: a systematic review and meta-analysis of real-world data.
Pediatric nephrology (Berlin, Germany)Recurrent Atypical Hemolytic-Uremic Syndrome (aHUS) Associated With CD46 Genetic Mutation: A Report of a Rare Case.
Cureus[Clinical efficacy and safety of eculizumab in pediatric atypical hemolytic uremic syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsAnalysis of adverse drug reactions associated with ravulizumab: a retrospective pharmacovigilance study utilizing the FAERS database.
Frontiers in immunologyThrombotic microangiopathy after kidney transplantation: diagnosis and management strategies.
Clinical kidney journalThe C3 p.Ile1157Thr mutation associated with atypical hemolytic uremic syndrome, particularly in Japan, does not lead to disease development in several mouse models.
Journal of thrombosis and haemostasis : JTHClinical Characteristics of 30 Cases of Childhood Haemolytic Uremic Syndrome in a Single Centre.
Nephrology (Carlton, Vic.)From post-infectious glomerulonephritis to complement-mediated aHUS: a diagnostic challenge.
Pediatric nephrology (Berlin, Germany)Hematologic disorders in pregnancy: the role of the complement system.
Expert review of hematologyClinical and cost-effectiveness of eculizumab withdrawal in atypical haemolytic uraemic syndrome: the SETS aHUS multi-centre, open-label, prospective and single-arm study.
Health technology assessment (Winchester, England)Eculizumab Successfully Rescues Against de novo Atypical Hemolytic Uremic Syndrome Following Retransplantation.
Transplantation proceedingsNot So Normal Skin: A Review of the "Random" Skin Biopsy.
The American Journal of dermatopathologyAn unusual trilogy: a case of comorbid aHUS, Fabry disease, and hypertrophic cardiomyopathy.
Frontiers in medicineSuccessful living kidney transplantation in a T-cell flow cytometry crossmatch-positive patient with atypical hemolytic uremic syndrome treated with an anti-C5 antibody: a case report.
CEN case reportsC3 mutation-associated atypical hemolytic uremic syndrome with severe renal dysfunction and hypertensive emergency successfully treated with ravulizumab and sacubitril/valsartan: a case report.
BMC nephrologyC3 molecular structural and histopathological analyses in a pediatric case of atypical hemolytic uremic syndrome with life-threatening gastrointestinal bleeding-a case report.
Frontiers in pediatricsActinomycotic Cholecystitis and Pancreatitis: Report of an Unusual Case.
The American journal of case reportsPractical Considerations for Infection Prevention with the Clinical Use of Complement Inhibitors.
Clinical journal of the American Society of Nephrology : CJASNEfficacy of Plasma Exchange in Secondary Thrombotic Microangiopathy: A Case Report and Literature Review.
CureusAcute kidney injury requiring temporary hemodialysis due to HELLP syndrome: a case report.
CEN case reportsReal-World Effectiveness of Ravulizumab Among C5 Inhibitor-Naive Patients With Atypical Hemolytic Uremic Syndrome: A Physician Panel-Based Chart Review (aHUS IMPACT Study).
Kidney medicineA Case of Severe Pre-Eclampsia Complicated by HELLP Syndrome and Extensive Hepatic Infarction.
Clinical case reportsComplement-mediated HUS revisited: evolving insights into pathophysiology, diagnosis, and treatment.
Frontiers in immunologySuccessful term pregnancy after renal transplant in end-stage renal disease with complement factor H-related mutation: A case report.
World journal of transplantationSalvaging sepsis-associated atypical hemolytic uremic syndrome with terminal complement blockade: A case report.
Medicine[Microangiopathies thrombotiques].
La Revue du praticienTailoring Eculizumab Treatment: Evaluation of Model-Informed Precision Dosing for Eculizumab in Patients with Paroxysmal Nocturnal Hemoglobinuria and Atypical Hemolytic Uremic Syndrome.
Therapeutic drug monitoringComplement Alternative Pathway Dominance in Atypical Hemolytic Uremic Syndrome Revealed by Endothelial Bioassays.
Kidney international reportsCFHR3*B Haplotype, Complement Activation, and Risk of IgA Nephropathy.
Journal of the American Society of Nephrology : JASNCase Report: Possible C3 nephritic factor-driven complement-mediated severe hemolytic anemia and acute kidney injury in a child with Bordetella parapertussis infection.
Frontiers in immunologyAntimeningococcal Protection in Patients Receiving Terminal Complement Inhibitors.
Kidney international reportsTreatment of atypical hemolytic uremic syndrome and C3 glomerulopathy in mice by hepatic expression of factor D.
Blood advancesFrom uterine atony to aHUS: A case of postpartum thrombotic microangiopathy.
Revista espanola de anestesiologia y reanimacionEvaluation of ravulizumab trough levels in pediatric complement-mediated hemolytic uremic syndrome in remission.
Pediatric nephrology (Berlin, Germany)Therapeutic Antibodies in Hematology: Advances in Malignant and Non-Malignant Disorders.
CellsDiscovery of (3R,4R)-15: An Advanced Factor B Inhibitor Entering Phase 3 for Complement-Mediated Diseases.
Journal of medicinal chemistryDiagnostic Challenges in Atypical Hemolytic Uremic Syndrome: A Case of Artificial Mitral Valve Dysfunction as a Possible Trigger for Severe Thrombotic Microangiopathy.
The American journal of case reportsCrovalimab Rescue Therapy in a Case With Genetic Complement Mediated Thrombotic Microangiopathy.
Kidney medicine[Targeting complement in atypical hemolytic and uremic syndrome: development and current status of eculizumab and ravulizumab].
Nephrologie & therapeutiqueAtypical Hemolytic Uremic Syndrome After Post-Abortion Infection: Case Report and Literature Review.
International journal of women's healthRenal Autotransplantation After Yang-Monti Neoureter Procedure: Surgical Case Report and Brief Literature Review.
Case reports in urologyModern challenges in infection prevention: encapsulated organisms in the era of novel complement inhibitors.
Kidney internationalBilateral root absence of permanent first molars: literature review and case report.
European journal of paediatric dentistryPost-miscarriage Complement-Mediated Thrombotic Microangiopathy in a 27-Year-Old Woman: A Case Highlighting Diagnostic and Therapeutic Gaps in Brazil.
CureusHypertriglyceridaemic pancreatitis associated with atypical haemolytic uraemic syndrome and secondary haemophagocytic lymphohistiocytosis: an immune system gone rogue.
BMJ case reportsThe Patient-Reported Outcomes Measurement Information System perspective of adults with long-standing atypical hemolytic uremic syndrome.
Research and practice in thrombosis and haemostasis[The night has many faces: When schistocytes step out of line].
PraxisRavulizumab in treatment-naïve patients with atypical hemolytic uremic syndrome: a real-world case series.
Drug target insightsLate Onset Thrombotic Microangiopathy in Kidney Transplants; Poor Outcome Despite Eculizumab Treatment.
Transplant international : official journal of the European Society for Organ TransplantationThrombotic Microangiopathy During Pregnancy: Role of Soluble Fms-like Tyrosine Kinase-1-Placental Growth Factor Ratios.
American journal of kidney diseases : the official journal of the National Kidney FoundationLong-term outcome and management of complement-mediated thrombotic microangiopathy/aHUS.
Hematology. American Society of Hematology. Education ProgramUpdate in the diagnosis of complement-mediated thrombotic microangiopathy/atypical hemolytic uremic syndrome.
Hematology. American Society of Hematology. Education ProgramTerminal complement inhibition in atypical haemolytic uremic syndrome: a single-centre experience.
Frontiers in pharmacologyNavigating Pediatric Atypical Hemolytic Uremic Syndrome: A Two-Year Case Series From Eastern India.
CureusAntifactor H Autoantibody Characterization in Atypical Hemolytic Uremic Syndrome.
Kidney international reportsSevere hypertension with thrombotic microangiopathy: the need for pathogenically targeted treatments.
Kidney internationalCase Report: Effective use of eculizumab in treating recurrent atypical HUS following renal transplantation triggered by SARS-CoV-2 infection.
Frontiers in medicine[Ultra-early administration of eculizumab in a child with atypical hemolytic uremic syndrome: a case report].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsMultidisciplinary management of concurrent postpartum eclampsia, HELLP syndrome, ruptured hepatic subcapsular hematoma, and atypical hemolytic uremic syndrome: a case report.
BMC pregnancy and childbirthMalignant Hypertension-Induced Thrombotic Microangiopathy Mimicking Atypical Hemolytic Uremic Syndrome and Thrombotic Thrombocytopenic Purpura.
JACC. Case reportsGenetic and Functional Evaluation of the Complement System in De Novo Thrombotic Microangiopathy After Transplantation: A Single-Center Experience.
Clinical transplantationRenal Histology Findings in Malignant Hypertension, a Systematic Review.
Hypertension (Dallas, Tex. : 1979)Sustained remission with eculizumab in refractory lupus nephritis with atypical haemolytic uraemic syndrome.
BMJ case reportsComplement-targeting therapies in hemolytic diseases.
Current opinion in immunologyCharacteristics and clinical courses of patients with atypical haemolytic uraemic syndrome on dialysis withdrawal after eculizumab treatment: sub-analysis of post-marketing surveillance in Japan.
Journal of nephrologyAtypical hemolytic uremic syndrome treated with anti-C5 antibody agent eculizumab, without genetic complement abnormalities.
Nagoya journal of medical scienceIptacopan in C5 blockade refractory atypical hemolytic uremic syndrome with associated Castleman's disease: case report.
BMC nephrologyUnmasking hidden shapes: unusual red cell morphologies in urine sediment.
Clinica chimica acta; international journal of clinical chemistryClinical and genetic characteristics of patients diagnosed with atypical hemolytic uremic syndrome (aHUS): epidemiological data from the Belgian cohort of the Global aHUS Registry.
Journal of nephrologyAtypical hemolytic uremic syndrome associated with pregnancy: A case report.
Medicine internationalSuccessful Management of Oxacillin-Induced Eosinophilic Myocarditis and Review of the Literature.
JACC. Case reportsA Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.
Case reports in nephrology and dialysisCalcific Changes in an End-Stage Kidney following Long-Term Dialysis, Tertiary Hyperparathyroidism, and Treatment for Complement-Mediated Thrombotic Microangiopathy: A Case Report.
Glomerular diseasesGlucose-6-Phosphate Dehydrogenase Deficiency Presenting as Atypical Hemolytic Uremic Syndrome: A Case Series and Literature Review.
Case reports in nephrologyStructural characterization of Factor H via computational methods: Implications for disease and therapy.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieEarly Identification and Eculizumab Treatment of Pregnancy-Associated Atypical Hemolytic Uremic Syndrome: A Case Report.
CureusWhole-exome sequencing in pediatric patients with glomerulonephritis.
Frontiers in genetics[Exploring critical thinking in the management of diagnosis and treatment of fulminant pregnancy-associated atypical haemolytic uraemic syndrome].
Zhonghua wei zhong bing ji jiu yi xueThrombotic microangiopathy multidisciplinary assessment team: demographics, final diagnosis, treatment, and outcomes.
BMC nephrologyRelevance of the interactions between the complement and contact coagulation systems on renal pathology.
NefrologiaIptacopan/LNP023 and rituximab as rescue therapy in a patient with systemic lupus erythematosus-associated atypical haemolytic uraemic syndrome.
Journal of nephrologyCase Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy.
Frontiers in immunologyIdentification of a new CD46 gene mutation site in a family with atypical hemolytic uremic syndrome.
BMC nephrologyPregnancy-Induced Atypical Hemolytic Uremic Syndrome.
CureusWhich Factors Influence Decisions to Withdraw from Eculizumab: A Qualitative Study of Patients Diagnosed with aHUS.
The patientManagement of Atypical Haemolytic Uraemic Syndrome With Triggers: Diagnostic and Treatment Algorithms From an Asia-Pacific Perspective.
Nephrology (Carlton, Vic.)C3 p.Asp1115Asn Variant-associated Atypical Hemolytic Uremic Syndrome with Spontaneous Remission Triggered by Influenza and COVID-19.
Internal medicine (Tokyo, Japan)Is pericardial effusion restricted to STEC-HUS? Observations in anti-factor H associated atypical hemolytic uremic syndrome.
Pediatric nephrology (Berlin, Germany)Cytokine storm and microvascular fate: mechanistic insights into endothelial injury in thrombotic microangiopathies.
Annals of medicine and surgery (2012)High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature.
Frontiers in immunologyEffectiveness and Safety of Switching to Ravulizumab From Eculizumab in Kidney Transplant Recipients With Atypical Hemolytic Uremic Syndrome: A Global aHUS Registry Analysis.
Clinical transplantationA Case of Spontaneous Resolution: Atypical Hemolytic Uremic Syndrome in a 4-Year-Old Boy.
Pediatric blood & cancerCOVID-19 Microangiopathy: Insights into plasma exchange as a therapeutic strategy.
Hematology, transfusion and cell therapyCost-effectiveness of lifelong eculizumab versus disease monitoring of aHUS.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationParoxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case Report.
Frontiers in medicineEfficacy of eculizumab discontinuation in atypical hemolytic uremic syndrome: a systematic review and meta-analysis.
Blood advancesA Case Report of Atypical Hemolytic Uremic Syndrome Presenting With Disseminated Intravascular Coagulation.
CureusDemographics and baseline disease characteristics of UK patients within the global aHUS registry.
BMC nephrologyHow I Treat: Genetic Testing in Atypical Hemolytic Uremic Syndrome.
Clinical journal of the American Society of Nephrology : CJASNTargeting the Roots of Kidney Disease: Systematic Review of the Therapies Targeting the Complement System.
Medicina (Kaunas, Lithuania)A Rare Case of Atypical Haemolytic Syndrome Following Right Retrograde Intrarenal Surgery (RIRS).
CureusGene-Environment Interaction: Lessons From Complement-Mediated Kidney Disease.
Seminars in nephrologyThe Hideous Side of Acute Pancreatitis: A Case of Pancreatitis-Induced Atypical Hemolytic Uremic Syndrome.
CureusPotentially reversible severe cardiac involvement in thrombotic microangiopathies with malignant hypertension.
Journal of nephrologyClinical insights on "Effectiveness and safety of ravulizumab for Japanese patients with atypical hemolytic uremic syndrome (aHUS) switched from eculizumab".
Clinical and experimental nephrologyAtypical hemolytic uremic syndrome is not always complement mediated: lesson for the clinical nephrologist.
Journal of nephrologyClinical, Epidemiological, and Immunohematological Profile of Hemolytic Uremic Syndrome in Children Between 6 Months and 12 Years at a Tertiary Care Center in South India.
Journal of pharmacy & bioallied sciencesReal-World effectiveness of eculizumab in atypical hemolytic uremic syndrome: a retrospective study from Western China.
Frontiers in endocrinologyCFH nonsense mutation-mediated pregnancy-associated atypical hemolytic uremic syndrome: Case report.
Molecular immunologyApproach to the prevention of atypical hemolytic uremic syndrome recurrence using eculizumab in a pregnant kidney transplant recipient with complement factor H gene mutation: a case report and literature review.
Journal of nephrologyDiagnostic Value of Biological Parameters in Biopsy-Confirmed Thrombotic Microangiopathy-MATRIX Consortium Group.
Kidney international reportsPostpartum renal cortical necrosis: experience from a tertiary care center in India.
Journal of nephrologyC3d-targeted complement inhibitors to correct complement dysregulation in aHUS patients.
Frontiers in immunologyComplement activation in a phase Ib study of fordadistrogene movaparvovec for Duchenne muscular dystrophy.
Molecular therapy : the journal of the American Society of Gene TherapyAdvances in Complement Inhibitory Strategies for the Treatment of Glomerular Disease: A Rapidly Evolving Field.
Journal of clinical medicineComplement System Inhibitors in Nephrology: An Update-Narrative Review.
International journal of molecular sciencesModel-Informed Precision Dosing of Eculizumab in Patients with Paroxysmal Nocturnal Hemoglobinuria.
Clinical pharmacokineticsConvergence of Complications: Atypical Hemolytic Uremic Syndrome in the Setting of Acute Pancreatitis.
The Journal of the Association of Physicians of IndiaShort-Term Efficacy of Eculizumab Therapy in Atypical Hemolytic Uremic Syndrome.
Indian journal of pediatricsOcular Manifestations in Atypical Hemolytic Uremic Syndrome Treated With Ravulizumab: A Case Report and Review of the Literature.
CureusEffectiveness and safety of ravulizumab for Japanese patients with atypical hemolytic uremic syndrome switched from eculizumab: an analysis of a post-marketing surveillance.
Clinical and experimental nephrologyThrombotic Thrombocytopenic Purpura Without Neurological Involvement: A Case Report and Review of the Diagnostic and Treatment Strategies.
CureusAtypical Hemolytic Uremic Syndrome/Complement-Mediated Thrombotic Microangiopathy Triggered by SARS-CoV-2 Infection: A Case Report.
Case reports in nephrology and dialysis[Diagnosis, treatment, and genetic analysis of five cases of primary atypical hemolytic uremic syndrome].
Zhonghua nei ke za zhiComprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.
Pediatric nephrology (Berlin, Germany)Streptococcus pneumoniae-associated hemolytic uremic syndrome Canadian Immunization Monitoring Program ACTive National Pediatric Surveillance (1991 to 2019).
Paediatrics & child healthHemolytic uremic syndrome in severe acute pancreatitis.
Oxford medical case reportsAtypical hemolytic uremic syndrome.
The Journal of allergy and clinical immunologyHypertensive Emergency and Atypical Hemolytic Uremic Syndrome Associated with Cocaine Use: A Diagnostic and Therapeutic Challenge.
Diseases (Basel, Switzerland)Perioperative Management of Atypical Hemolytic Uremic Syndrome in a Patient on Maintenance Eculizumab Therapy: A Case Report and Review of the Literature.
NephronAtypical hemolytic uremic syndrome: a rare complication of postendoscopic retrograde cholangiopancreatography pancreatitis.
JPGN reportsComplement-Mediated Kidney Disease and Living Donor Transplantation: Tailoring Approaches to Improve Outcomes.
Current transplantation reportsPLASMIC score to aid diagnosis of aHUS: an analysis of C5 inhibitor clinical trials and the PINC AI™ healthcare database.
BMC nephrologyEfficacy and safety of novel complement inhibitors in atypical haemolytic uremic syndrome: a protocol for systematic review and meta-analysis.
BMJ openMarginal zone lymphoma with anti-factor H IgM and atypical hemolytic uremic syndrome successfully treated with odronextamab.
HaematologicaAtypical hemolytic uremic syndrome associated with acute pancreatitis.
Clinical nephrologyThe 4 functional segments of Factor H: Role in physiological target recognition and contribution to disease.
Journal of immunology (Baltimore, Md. : 1950)Advancements in complement inhibition for PNH and primary complement-mediated thrombotic microangiopathy.
Blood advancesLong-Term Outcomes of Anticomplement Factor H Antibody Positive Versus Negative Atypical Hemolytic Uremic Syndrome.
Indian journal of nephrology[Multidisciplinary consensus on the diagnosis and treatment of atypical hemolytic uremic syndrome (2025 version)].
Zhonghua nei ke za zhiComplement dysregulation at lymphatics.
The Journal of allergy and clinical immunologyTreatment of atypical hemolytic uremic syndrome with eculizumab in a patient presenting with neuropsychiatric prodrome: a case report.
Frontiers in immunologyPlasma exchange combined with eculizumab in the management of atypical hemolytic uremic in pediatric patients: A case report.
MedicineAtypical Hemolytic Uremic Syndrome: A Review of Complement Dysregulation, Genetic Susceptibility and Multiorgan Involvement.
Journal of clinical medicineMultidisciplinary consensus on the diagnosis and management of patients with atypical Hemolytic Uremic Syndrome (complement-mediated TMA): Recommendations from Italian scientific societies, patient associations and regulators.
Pharmacological researchTen tips for managing complement-mediated thrombotic microangiopathies (formerly atypical hemolytic uremic syndrome): narrative review.
BMC nephrologyAutoantibodies and therapeutic antibodies against complement factor H.
Immunology lettersAtypical presentation of H1N1-induced thrombotic microangiopathy with CD46 gene mutation .
Clinical nephrology. Case studiesAtypical Hemolytic Uremic Syndrome Triggered by COVID-19 Infection in a Pediatric Patient With CD46 Mutation.
Clinical case reportsThe Critical Importance of Diagnosing Atypical Hemolytic Uremic Syndrome in Postpartum Renal Dysfunction in a Patient With Systemic Lupus Erythematosus: A Case Report and Comprehensive Review.
CureusUse of complement C5-inhibitor eculizumab in patients with infection-associated hemolytic uremic syndrome - a case-series report.
BMC pediatricsUlcerative Colitis Gone Rogue: A Case of Complement-Mediated Thrombotic Microangiopathy in Inflammatory Bowel Disease.
CureusGermline Genetic Variant Classification Requires More Equitable Reference Database Representation.
PediatricsFactor B as a therapeutic target for the treatment of complement-mediated diseases.
Frontiers in immunologyA Case of Atypical Hemolytic Uremic Syndrome With a Complement Factor I Mutation Triggered by a Femoral Neck Fracture.
Nephrology (Carlton, Vic.)Atypical Hemolytic Uremic Syndrome Associated with BNT162b2 mRNA COVID-19 Vaccine in a Kidney Transplant Recipient: A Case Report and Literature Review.
Infectious disease reportsThe Path to Accessible Care: Development and Impact of Eculizumab Biosimilars for Paroxysmal Nocturnal Hemoglobinuria and Atypical Hemolytic Uremic Syndrome.
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapyAtypical hemolytic uremic syndrome triggered by acute pancreatitis.
Revista espanola de enfermedades digestivasTargeted Complement Treatments in Glomerulopathies: A Comprehensive Review.
Journal of clinical medicineAtheroembolic Kidney Disease and Atypical Hemolytic Uremic Syndrome: Two Sides of the Same Coin?
Kidney & blood pressure researchNovel immunochromatographic test for rapid detection of anti-factor H autoantibodies with an assessment of its clinical relevance.
Frontiers in immunologyRecommendations for diagnosis and treatment of Atypical Hemolytic Uremic Syndrome (aHUS): an expert consensus statement from the Rare Diseases Committee of the Brazilian Society of Nephrology (COMDORA-SBN).
Jornal brasileiro de nefrologiaAtypical hemolytic uremic syndrome with a C3 variant following COVID-19: a case report.
Frontiers in pediatricsPostpartum thrombotic microangiopathy with elevated liver enzymes: Distinguishing postpartum HELLP syndrome from atypical hemolytic uremic syndrome.
Indian journal of gastroenterology : official journal of the Indian Society of GastroenterologyKidney and pregnancy outcomes in pregnancy-associated atypical hemolytic uremic syndrome: A systematic review and meta-analysis.
MedicineSevere pregnancy-associated atypical hemolytic uremia syndrome in the context of the COVID-19 pandemic: a novel survival case report.
BMC pregnancy and childbirthUpdates in atypical hemolytic syndrome.
Current opinion in pediatrics[Atypical hemolytic uremic syndrome: differential diagnosis and therapy - A clinical practice guideline for diagnosis and therapy].
Deutsche medizinische Wochenschrift (1946)Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report.
Journal of investigative medicine high impact case reportsAdverse drug events (ADEs) risk signal mining related to eculizumab based on the FARES database.
Frontiers in pharmacologyThe membrane attack complex drives thrombotic microangiopathy in complement mediated atypical hemolytic uremic syndrome.
Kidney international[Thrombopenia and hemolytic anemia in acute and emergency medicine : Detailed view at thrombotic microangiopathies].
Innere Medizin (Heidelberg, Germany)Thrombotic Microangiopathy Associated with Systemic Adeno-Associated Virus Gene Transfer: Review of Reported Cases.
Human gene therapyGenetic Assessment of Living Kidney Transplant Donors: A Survey of Canadian Practices.
Canadian journal of kidney health and diseaseA Case of Thrombotic Microangiopathy Secondary to Hypertensive Emergency: Presentation, Management, and Distinguishing Features.
CureusCholecystectomy-induced thrombotic microangiopathy (TMA) in a postpartum patient successfully treated with eculizumab: a case report.
Journal of medical case reportsComplement-mediated hemolytic uremic syndrome associated with postpartum hemorrhage: case series and systematic review of individual participant data.
Research and practice in thrombosis and haemostasisPrimary Thrombotic Microangiopathy in Pediatric Patients.
Global pediatric healthA Unique Presentation of Atypical Hemolytic Uremic Syndrome With Unilateral Blindness and Ischemic Stroke: A Case Report.
CureusExtrarenal manifestations of atypical hemolytic uremic syndrome: a systematic review and meta-analysis.
Pediatric researchAtypical hemolytic uremic syndrome: diagnosis, management, and discontinuation of therapy.
Hematology. American Society of Hematology. Education ProgramDe Novo C3 Glomerulonephritis of Allograft Associated With Factor H Autoantibody in a Patient with Systemic Lupus Erythematosus: A Case Report.
Transplantation proceedingsComplement in Kidney Transplantation.
Transplantation reviews (Orlando, Fla.)Coronavirus Disease 2019-Associated Thrombotic Microangiopathy: A Single-Center Experience.
International journal of molecular sciencesBeyond the Norm: Gastroenteritis-Induced Atypical Hemolytic Uremic Syndrome in the Absence of Complement Dysfunction.
CureusWill we change our view of the causes of the arterial hypertension development?
Ceskoslovenska patologie[What is proven in the treatment of complement-mediated kidney diseases?].
Innere Medizin (Heidelberg, Germany)Treatment discontinuation in adults with atypical hemolytic uremic syndrome (aHUS): a qualitative study of international experts' perspectives with associated cost-consequence analysis.
BMC nephrologySystematic Review of Individual Patient Data COVID-19 Infection and Vaccination-Associated Thrombotic Microangiopathy.
Kidney international reportsProspective validation of initial eculizumab dosing in adults with atypical hemolytic uremic syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationCase Report of Dinutuximab-induced Atypical Hemolytic Uremic Syndrome.
Journal of pediatric hematology/oncology[Thrombotic microangiopathy as a rare complication after lung transplantation].
PraxisAcute Kidney Injury Secondary to Hypertension-Related Thrombotic Microangiopathy: A Case Report and Literature Review.
CureusAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome hemolítico urêmico forma atípica e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A condição é causada por alterações genéticas em fatores que regulam o sistema complemento, como os genes CFH, CFI, CD46, C3, CFB, DGKE e THBD. Essa falha imune desencadeia a formação descontrolada de coágulos na microcirculação sanguínea.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Síndrome hemolítico urêmico forma atípica. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-hemolitico-uremico-forma-atipica
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome hemolítico urêmico forma atípica
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov
