scholarly journals Atypical hemolytic uremic syndrome: a brief review

2017 ◽  
Vol 9 (2) ◽  
Author(s):  
Kuixing Zhang ◽  
Yuxin Lu ◽  
Kevin T. Harley ◽  
Minh-Ha Tran
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Regulatory Gene ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Kidney Injury ◽  
Regulatory Mechanisms ◽  
Complement Inhibitor ◽  
Loss Of Function ◽  
Microangiopathic Hemolytic Anemia ◽  
Uremic Syndrome ◽  
Glomerular Capillaries

Atypical hemolytic uremic syndrome (aHUS) is a disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The histopathologic lesions of aHUS include thrombotic microangiopathy involving the glomerular capillaries and thrombosis involving arterioles or interlobar arteries. Extra-renal manifestations occur in up to 20% of patients. The majority of aHUS is caused by complement system defects impairing ordinary regulatory mechanisms. Activating events therefore lead to unbridled, ongoing complement activity producing widespread endothelial injury. Pathologic mutations include those resulting in loss-of-function in a complement regulatory gene (<em>CFH, CFI, CD46</em> or <em>THBD</em>) or gain-of-function in an effector gene (<em>CFB</em> or <em>C3</em>). Treatment with the late complement inhibitor, eculizumab – a monoclonal antibody directed against C5 – is effective.

scholarly journals Atypical Hemolytic Uremic Syndrome following Acute Type A Aortic Dissection

2020 ◽  
Vol 2020 ◽  
pp. 1-4 ◽  
Author(s):  
Eigo Ikushima ◽  
Manabu Hisahara ◽  
Takuya Nishijima ◽  
Hikaru Uchiyama ◽  
Tatsushi Onzuka ◽  
...  
Keyword(s):  
Aortic Dissection ◽  
Hemolytic Uremic Syndrome ◽  
Hemolytic Anemia ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Kidney Injury ◽  
Type A ◽  
Acute Type ◽  
Microangiopathic Hemolytic Anemia ◽  
Type A Aortic Dissection ◽  
Uremic Syndrome

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA)-related disease that manifests as a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI) and is caused by uncontrolled activation of the complement system. We report the case of a 61-year-old woman with acute type A aortic dissection that subsequently developed into aHUS. The hematologic disorders underlying aHUS improved after treatment with the complement inhibitor eculizumab. It is important to consider aHUS when a patient clinically develops a triad of microangiopathic hemolytic anemia, thrombocytopenia, and an increasing creatinine level following cardiovascular surgery.

scholarly journals Life-Threatening Extrarenal Manifestations in an Infant with Atypical Hemolytic Uremic Syndrome Caused by a Complement 3-Gene Mutation

2019 ◽  
Vol 44 (5) ◽  
pp. 1300-1305
Author(s):  
Sa Ra Han ◽  
Myung Hyun Cho ◽  
Jin Soo Moon ◽  
Il Soo Ha ◽  
Hae Il Cheong ◽  
...  
Keyword(s):  
Gastrointestinal Bleeding ◽  
Hemolytic Uremic Syndrome ◽  
Gene Mutation ◽  
Hemolytic Anemia ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Pulmonary Hemorrhage ◽  
Microangiopathic Hemolytic Anemia ◽  
Life Threatening ◽  
Uremic Syndrome ◽  
Extrarenal Manifestations

Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment caused by uncontrolled activation of the complement system. About 20% of patients show extrarenal manifestations, with central nervous system involvement being the most frequent. We described the clinical course and management of aHUS in an infant, that was caused by a complement 3 (C3) gene mutation with severe extrarenal manifestations. Case Presentation: A 4-month-old girl visited our hospital for jaundice and petechiae. Laboratory tests revealed microangiopathic hemolytic anemia, thrombocytopenia, and hyperazotemia. She was diagnosed with aHUS with a C3 p.E1160K mutation. Daily fresh-frozen plasma (FFP) therapy was administered; however, she experienced the severe extrarenal manifestations of pulmonary hemorrhage and gastrointestinal bleeding. With aggressive treatment, supportive care, and daily FFP transfusion, the patient recovered and was discharged after 72 days of hospital stay, on a regular FFP transfusion. Four months after diagnosis, she was switched to eculizumab treatment. Twenty months have passed since then and she has been relapse-free until now. Conclusion: aHUS is rare but has a devastating course if not properly treated. Severe extrarenal manifestations, such as pulmonary hemorrhage and gastrointestinal bleeding, can develop in aHUS caused by a C3 mutation. In our case, long-term management with eculizumab resulted in relapse-free survival.

Eculizumab Modifies Outcomes in Adults with Atypical Hemolytic Uremic Syndrome with Acute Kidney Injury

2018 ◽  
Vol 48 (3) ◽  
pp. 225-233 ◽  
Author(s):  
Mercedes Cao ◽  
Bruna N. Leite ◽  
Tamara Ferreiro ◽  
María Calvo ◽  
Constantino Fernández ◽  
...  
Keyword(s):  
Acute Kidney Injury ◽  
Hemolytic Uremic Syndrome ◽  
Kidney Function ◽  
Case Reports ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Kidney Injury ◽  
Complete Recovery ◽  
Genetic Abnormalities ◽  
Uremic Syndrome ◽  
Meta Analyses

Background: Atypical hemolytic uremic syndrome (aHUS) is a rare disease associated with congenital or acquired genetic abnormalities that result in uncontrolled complement activation, leading to thrombotic microangiopathy and kidney failure. Until recently, the only treatment was plasma exchange or plasma infusion (PE/PI), but 60% of patients died or had permanent kidney damage despite treatment. Eculizumab, a complement inhibitor, has shown promising results in aHUS. However, data are mainly extracted from case reports or studies of heterogeneous cohorts, and no direct comparison with PE/PI is available. Methods: An observational retrospective study of adult, dialysis-dependent aHUS patients with acute kidney injury (AKI) who were treated with either PE/PI alone or with second-line eculizumab in our center. We compared the effect of PE/PI and eculizumab on kidney function, hypertension, proteinuria, hematologic values, relapse, and death. Results: Thirty-one patients were included (females, 18; sporadic aHUS, 29; mean age, 46 ± 20 years). Twenty-six patients were treated with PE/PI alone, and 5 were deemed to be plasma-resistant and received eculizumab after stopping PE/PI. Among patients receiving eculizumab, 80% attained complete recovery of kidney function, 100% stopped dialysis, 20% had decreased proteinuria, and no patient relapsed (vs. 38.5, 50, 15.4, and 11.5%, respectively, of patients receiving only PE/PI). At 1-year of follow-up, no deaths had occurred in either group. Conclusion: Eculizumab shows greater efficacy than PE/PI alone for the treatment of adult aHUS patients with AKI. Prospective studies and meta-analyses are warranted to confirm our findings and set guidelines for treatment, monitoring, and maintenance.

scholarly journals Nephrotic syndrome associated with primary atypical hemolytic uremic syndrome

2020 ◽  
Author(s):  
Diana Carolina Bello-Marquez ◽  
John Fredy Nieto-Rios ◽  
Lina Maria Serna-Higuita ◽  
Alfonso Jose Gonzalez-Vergara
Keyword(s):  
Nephrotic Syndrome ◽  
Hemolytic Uremic Syndrome ◽  
Renal Dysfunction ◽  
Rare Disease ◽  
Alternative Pathway ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Genetic Mutations ◽  
Microangiopathic Hemolytic Anemia ◽  
Uremic Syndrome ◽  
Alternative Pathway Of Complement

Abstract Primary atypical hemolytic-uremic syndrome is a rare disease characterized by non-immune microangiopathic hemolytic anemia, thrombocytopenia, and renal dysfunction; it is related to alterations in the regulation of the alternative pathway of complement due to genetic mutations. The association with nephrotic syndrome is unusual. We present here a pediatric patient diagnosed with primary atypical hemolytic-uremic syndrome associated with nephrotic syndrome who responded to eculizumab treatment.

scholarly journals Atypical Hemolytic Uremic Syndrome Presenting as Acute Heart Failure—A Rare Presentation: Diagnosis Supported by Skin Biopsy

2019 ◽  
Vol 7 ◽  
pp. 232470961984290
Author(s):  
Asim Kichloo ◽  
Savneek Singh Chugh ◽  
Sanjeev Gupta ◽  
Jay Pandav ◽  
Praveen Chander
Keyword(s):  
Heart Failure ◽  
Skin Biopsy ◽  
Hemolytic Uremic Syndrome ◽  
Thrombotic Microangiopathy ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Systolic Heart Failure ◽  
Kidney Injury ◽  
Rare Presentation ◽  
History Of ◽  
Uremic Syndrome

Atypical hemolytic uremic syndrome (aHUS) is a rare disorder of uncontrolled complement activation that manifests classically as anemia, thrombocytopenia, and renal failure, although extrarenal manifestations are observed in 20% of the patient most of which involving central nervous system, with relatively rare involvement of the heart. In this article, we report the case of a 24-year-old male with no history of heart disease presenting with acute systolic heart failure along with microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Given his presentation of thrombotic microangiopathy (TMA), along with laboratory results significant for low haptoglobin, platelets, hemoglobin, C3, C4, CH50, and normal ADAMTS13 levels, with no diarrhea and negative STEC polymerase chain reaction in stool, aHUS diagnosis was established with strong clinical suspicion, and immediate initiation of treatment was advised. Kidney biopsy to confirm diagnosis of aHUS was inadvisable because of thrombocytopenia, so the skin biopsy of a rash on his arm was done, which came to be consistent with thrombotic microangiopathy. Our case highlights a relatively rare association between aHUS and cardiac involvement, and the use of skin biopsy to support diagnosis of aHUS in patients who cannot undergo renal biopsy because of thrombocytopenia.

scholarly journals Complement Inhibitor Eculizumab in Atypical Hemolytic Uremic Syndrome

2009 ◽  
Vol 4 (8) ◽  
pp. 1312-1316 ◽  
Author(s):  
Christoph J. Mache ◽  
Birgit Acham-Roschitz ◽  
Veronique Frémeaux-Bacchi ◽  
Michael Kirschfink ◽  
Peter F. Zipfel ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complement Inhibitor ◽  
Uremic Syndrome

scholarly journals COMPLEMENT INHIBITOR ECULIZUMAB IN ATYPICAL HEMOLYTIC-UREMIC SYNDROME: SINGLE CENTER CASE SERIES

2021 ◽  
Author(s):  
Monika Vitkauskaitė ◽  
Artūras Vinikovas ◽  
Marius Miglinas ◽  
Laurynas Rimševičius ◽  
Agnė Čerkauskaitė ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Hemolytic Uremic Syndrome ◽  
Treatment Guidelines ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Case Series ◽  
Complement Inhibitor ◽  
Single Center ◽  
Positive Effects ◽  
Uremic Syndrome

Our case series showed that eculizumab is efficacious and safe in treating atypical hemolytic-uremic syndrome, as well as it has positive effects on quality of life. Further extensive studies are required to develop unified treatment guidelines.

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