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

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.

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Atypical Hemolytic Uremic Syndrome After Traumatic Rectal Injury: A Case Report

10.21203/rs.3.rs-102627/v1 ◽

2020 ◽

Author(s):

Yunchul Park ◽

Ji-Hyoun Kang

Keyword(s):

Renal Failure ◽

Acute Renal Failure ◽

Hemolytic Uremic Syndrome ◽

Hemolytic Anemia ◽

Urine Output ◽

Atypical Hemolytic Uremic Syndrome ◽

Traumatic Injury ◽

Intermittent Hemodialysis ◽

Microangiopathic Hemolytic Anemia ◽

Uremic Syndrome

Abstract Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, progressive, life-threatening condition of thrombotic microangiopathy (TMA) that is characterized by thrombocytopenia, microangiopathic hemolytic anemia, and renal impairment. The mechanisms of aHUS are still unknown. To our knowledge, there is currently no report establishing aHUS after traumatic injury. We herein present a case of aHUS after traumatic injury.Case presentation: A 55-year-old man with a medical history of percutaneous coronary intervention due to ST elevation myocardial infarction visited the emergency room after a traumatic injury caused by a tree limb. Abdominal computed tomography revealed a rectal wall defect with significant air density in the perirectal space and preperitoneum, implying rectal perforation and, therefore, an emergency operation was performed. As there was an absence of intraperitoneal intestinal perforation, we performed diverting sigmoid loop colostomy. An additional intermittent simple repair was performed due to perianal and anal injuries. One day after the operation, his urine output abruptly decreased and serum creatinine level increased. In addition, his platelet level decreased, and a spiking fever occurred after 2 days. The patient was diagnosed with acute renal failure secondary to aHUS and was treated with fresh frozen plasma replacement. Continuous renal replacement therapy (CRRT) was also started for oliguria and uremic symptoms. The patient received CRRT for 3 days and intermittent hemodialysis thereafter. He received four weekly sessions of hemodialysis for 2 weeks. After hemodialysis and subsequent supportive treatment, his urine output and renal function continuously improved. Similarly, his hemolytic anemia and thrombocytopenia also gradually improved. His dialysis was terminated on day 22 of admission and he was discharged after recovery. His improved state has since been maintained.Conclusions: This case suggests that a traumatic event can be a triggering factor for aHUS, and it should be considered in patients who have thrombocytopenia and acute renal failure with microangiopathic hemolytic anemia after trauma. Early diagnosis and appropriate management can be critical to achieve favorable outcomes in posttraumatic patients with aHUS.

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Atypical Hemolytic Uremic Syndrome following Acute Type A Aortic Dissection

Case Reports in Hematology ◽

10.1155/2020/2467953 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4 ◽

Cited By ~ 1

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.

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Hemolytic Uremic Syndrome Caused by Mycoplasma Pneumoniae Infection in Children: A Case Report and Literature Review

Journal of Health Science and Medical Research ◽

10.31584/jhsmr.2021848 ◽

2021 ◽

Author(s):

Sirinthip Kittivisuit ◽

Prayong Vachvanichsanong ◽

Thirachit Chotsampancharoen

Keyword(s):

Hemolytic Uremic Syndrome ◽

Hemolytic Anemia ◽

Mycoplasma Pneumoniae ◽

Atypical Hemolytic Uremic Syndrome ◽

Renal Dialysis ◽

Microangiopathic Hemolytic Anemia ◽

Uremic Syndrome ◽

Red Cell Transfusion ◽

Stage Renal Disease ◽

End Stage

We describe the case of a 6-year-old boy with a Mycoplasma pneumoniae (M. pneumoniae) respiratory tract infection associated with thrombotic microangiopathic hemolytic anemia and thrombocytopenia with renal failure which was diagnosed as atypical hemolytic uremic syndrome. Renal biopsy showed features of thrombotic microangiopathy. The patient was treated with azithromycin for the M. pneumoniae infection, and supportive care with red cell transfusion and renal dialysis in the acute period. The microangiopathic hemolytic anemia and thrombocytopenia resolved within 2 months after diagnosis but the renal function damage was irreversible. The patient developed end-stage renal disease and required long term renal replacement therapy.

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Continued Eculizumab Therapy for Persistent Atypical Hemolytic Uremic Syndrome

The Open Urology & Nephrology Journal ◽

10.2174/1874303x01306010046 ◽

2013 ◽

Vol 6 (1) ◽

pp. 46-48 ◽

Cited By ~ 2

Author(s):

Arif Asif ◽

Syed S. Haqqie ◽

Ketan Ghate ◽

Roy O Mathew ◽

Tushar Vachharajani ◽

...

Keyword(s):

Renal Function ◽

Hemolytic Uremic Syndrome ◽

Hemolytic Anemia ◽

Marked Improvement ◽

Atypical Hemolytic Uremic Syndrome ◽

Microangiopathic Hemolytic Anemia ◽

Atypical Hus ◽

Neutralizing Monoclonal Antibody ◽

Uremic Syndrome

Atypical hemolytic uremic syndrome (atypical HUS) is characterized by endothelial injury and microvascular thrombosis resulting in microangiopathic hemolytic anemia, thrombocytopenia, and ischemic injury to organs, especially the kidney. Activation of complements is involved in the pathogenesis of atypical HUS. Eculizumab, a neutralizing monoclonal antibody directed against complement C5, has shown salutary effects in patients with atypical HUS. In this report, we present a 23-year-old man with atypical HUSwho was treated with eculizumab. During the first four weeks of treatment, eculizumab failed to achieve a remission. Microangiopathic hemolytic anemia and thrombocytopenia persisted, while renal function deteriorated necessitating initiation of hemodialysis. Continuation of eculizumab therapy, however, led to marked improvement in hemolytic anemia, thrombocytopenia, and renal function. After 10 weeks of eculizumab therapy, hemodialysis was discontinued. At 5-month follow-up, serum creatinine was 1.1 mg/dL with continued eculizumab therapy every other week. In addition, platelet count was normal, while there was no evidence of hemolysis. We conclude that in patients with persistent atypical HUS continued treatment with eculizumab can be helpful in achieving remission.

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