Presentation Of Hemolytic Uremic Syndrome Research Articles

An Unusual Case of Lupus-Associated Atypical Hemolytic Uremic Syndrome Presenting with Diffuse Alveolar Hemorrhage and Acute Renal Failure

An Unusual Case of Lupus-Associated Atypical Hemolytic Uremic Syndrome Presenting with Diffuse Alveolar Hemorrhage and Acute Renal Failure

Primary Atypical Hemolytic Uremic Syndrome Presenting with Raynaud Phenomenon Triggered by COVID-19

Primary Atypical Hemolytic Uremic Syndrome Presenting with Raynaud Phenomenon Triggered by COVID-19

Effective Treatment of a Post-renal Transplantation Patient with Early Recurrent Focal Segmental Glomerulosclerosis and Concomitant Hemolytic Uremic Syndrome, a Case Report

While recurrence of primary Focal Segmental Glomerular Sclerosis (FSGS) is common post renal transplantation (30%-80%), a concomitant presentation of hemolytic uremic syndrome (HUS) and recurrent FSGS has never been reported. In addition, treatment of recurrent FSGS and HUS post-renal transplantation is challenging; and usually individualized based on center's experience. Here, we reported a case of a pediatric patient with early recurrence of FSGS and concomitant HUS post-renal transplantation. This patient had a complete hematological and renal response following the administration of Eculizumab and Rituximab, respectively. Withdrawal of Tacrolimus as well as plasmapheresis did not improve kidney function. Therefore, we concluded that both Eculizumab and Rituximab could achieve remission in comparable cases when administered at fixed intervals.

EBV-ASSOCIATED ATYPICAL HEMOLYTIC UREMIC SYNDROME PRESENTING WITH DIFFUSE ALVEOLAR HEMORRHAGE

TOPIC: Pulmonary Manifestations of Systemic Disease TYPE: Medical Student/Resident Case Reports INTRODUCTION: Atypical Hemolytic Uremic Syndrome (aHUS) is a severe form of thrombotic microangiopathy that presents with nonimmune hemolytic anemia, thrombocytopenia, and renal failure. Diffuse alveolar hemorrhage (DAH) due to disruption of alveolar-capillary basement membrane is an exceedingly rare presentation of aHUS. CASE PRESENTATION: A 19-year-old-male presented with acute respiratory distress, hemoptysis, tachypnea, tachycardia, elevated blood pressure, and oliguria. One month prior the patient was diagnosed with infectious mononucleosis associated with thrombocytopenia and splenomegaly. Initial labs demonstrated hemolytic anemia, thrombocytopenia, and acute renal failure. CT chest showed diffuse bilateral central alveolar opacities concerning for alveolar hemorrhage. Patient was stabilized with supplemental oxygen and urgent hemodialysis was initiated. Further studies revealed schistocytes on peripheral blood smear, hypocomplementemia, borderline low activity of ADAMTS-13, positive IgM/IgG to EBV nuclear antigen and a renal biopsy consistent with acute thrombotic microangiopathy affecting nearly all blood vessels and glomeruli. Serologies were negative for ANA, anti-dsDNA, ANCA, Anti-GBM ab, rheumatoid factor, HIV, HBV, and HCV. Patient was diagnosed with EBV infection associated Atypical Hemolytic Uremic Syndrome (aHUS) and received treatment with plasmapheresis and eculizumab. With this treatment, patients' respiratory distress, hemoptysis, and renal function improved, following which he was discharged with outpatient hemodialysis. He continues follow up with hematology and nephrology. DISCUSSION: aHUS is much less frequent than Shiga-toxin mediated hemolytic uremic syndrome. Endothelial injury and thrombotic microangiopathy are hallmarks of this complement mediated process. It is associated with high risk of ESRD. Recent advances in therapeutics targeted at complement regulatory proteins including Eculizumab, have offered better outcomes. DAH is a life-threatening complication that has rarely been reported with aHUS. Treatment of diffuse alveolar hemorrhage depends on etiology. In our patient, diagnosis and targeted management of aHUS helped improve hemoptysis and respiratory distress from DAH. CONCLUSIONS: Atypical HUS can present with acute onset renal failure and diffuse alveolar hemorrhage in some instances. Association with EBV infection is extremely rare. REFERENCE #1: Joseph C, Gattineni J. Complement disorders and hemolytic uremic syndrome. Curr Opin Pediatr. 2013;25(2):209-15. REFERENCE #2: Hong JY, Jung JY, Kang YA, Bae YS, Kim YS, Kim SK, et al. Delayed Hemolytic Uremic Syndrome Presenting as Diffuse Alveolar Hemorrhage. Korean J Crit Care Med. 2014;29(1):43-7 REFERENCE #3: Al-Shyoukh A, Younis M, Abughanimeh O, Tahboub M, Hamarshi MS. An Unusual Case of Diffuse Alveolar Hemorrhage as a Clinical Manifestation of Atypical Hemolytic Uremic Syndrome: A Case Report. Cureus. 2019;11(7):e5059-e. DISCLOSURES: No relevant relationships by zainub ajmal, source=Web Response No relevant relationships by Sana Ghalib, source=Web Response No relevant relationships by Boris Shkolnik, source=Web Response No relevant relationships by Fatima Tuz Zahra, source=Web Response

758: Atypical Hemolytic Uremic Syndrome Presenting as Stroke With Complete Loss of Vision

758: Atypical Hemolytic Uremic Syndrome Presenting as Stroke With Complete Loss of Vision

Novel Mutation in CD46 in a Child with Atypical Hemolytic Uremic Syndrome (HUS) Characterized By Profound Thrombocytopenia and Anemia

Introduction: Atypical HUS [aHUS] is a rare disease characterized by hemolytic anemia, thrombocytopenia and renal dysfunction due to genetic mutations that lead to uncontrolled activation of the alternative complement pathway. MCP [Membrane Co-Factor protein] or CD46 is a complement factor 3b (C3b) binding molecule which is a cofactor for complement factor I dependent cleavage of C3b. Pathogenic variants in MCP gene account for 5-9% of cases with aHUS. We report the case of a pediatric patient presenting with severe thrombocytopenia, anemia and renal dysfunction who was found to have a novel mutation in MCP and complete recovery with eculizumab therapy.Case report: A previously healthy 9-year-old girl presented with a 2-day history of fever, abdominal pain, emesis and oliguria. There was no history of diarrhea, sick contacts or infectious exposures. There was no known renal disease in her family. Her exam was remarkable for mild scleral icterus, epigastric tenderness but no peritoneal signs. Her labs showed renal failure; BUN 90mg/dl, Cr 4.69 mg/dl, anemia: hemoglobin of 8.4g/dl and severe thrombocytopenia with a platelet count of 4,000/uL. Her peripheral smear had schistocytes, the LDH was elevated at 2511 units/liter and haptoglobin was low at 14 mg/dl. Coagulation parameters were normal. All findings were consistent with severe thrombotic microangiopathy (TMA). A stool assay for Shiga toxin was negative, Her C3 and C4 levels were normal Renal ultrasound showed only increased echogenicity in the right kidney. Urinalysis showed hematuria and proteinuria, culture was negative.Based on triad of hemolytic anemia, thrombocytopenia and renal dysfunction microangiopathic hemolytic anemia (MAHA) was suspected. Pending ADAMTS13 results, plasmapheresis was performed daily (x4) without significant improvement in hemolysis or renal function- as a result. Eculizumab, a human anti-C5 monoclonal antibody was initiated: after the first 2 doses, there was significant improvement in renal function, her hemolysis stopped, and platelet counts began to recover. After 2 months of treatment, renal function, hemoglobin and platelets have all normalized.Her genetic renal panel tested for mutations in 10 genes implicated in aHUS revealed a heterozygous variant in Exon 2 of the CD46 gene (c.132G>A, pMet44Ile) predicted pathogenic by 5/6 algorithms. Based on the patient presentation, normal ADAMTS13 activity (69%), negative Shiga toxin, and response to eculizumab, this case of aHUS was most likely related to the novel CD46 mutation reported for the first time in this work..Conclusion: Our patient had an unusual presentation of Hemolytic uremic syndrome characterized by severe thrombocytopenia and hemolytic anemia. This case is unique in that we saw moderately severe renal failure, but no other organ system involvement despite severe hematologic aberrations. In atypical HUS,we often see more multiorgan involvement when platelets counts are very low, consistent with more severe thombotoc microangipathy. Her genetic test revealed a novel mutation in the CD46 gene, a regulator of complement activation. She has had an excellent response to eculizumab therapy with complete recovery of renal function and resolution of all hematologic signs of thrombotic microangiopathy, suggesting that his gene variant can be causative of atypical HUS. DisclosuresAaron:Alexion - aHUS Regional Advisory Board: Consultancy, Membership on an entity’s Board of Directors or advisory committees. Wong:UpToDate: Consultancy, Patents & Royalties.

A Case Report of Atypical Hemolytic Uremic Syndrome Presenting with Massive Proteinuria

Atypical hemolytic uremic syndrome (HUS) is most commonly due to dysregulation of the alternative complement pathway. It is characterized by the classic triad of hemolytic anemia, thrombocytopenia, and acute kidney injury. Treatment includes supportive care including hemodialysis along with steroids, plasmapheresis, and eculizumab. We report a case of a 22 year old female who was diagnosed with atypical HUS and was also noted to have a severe degree of proteinuria, nearly 24 grams in the 24 hour urine collection. Proteinuria is observed in cases of atypical HUS because of the glomerular leakage of protein due to severe endothelial and epithelial injury. However, there is little data directly addressing the degree of proteinuria observed in these patients. This leads us to ask whether the degree of proteinuria has any prognostic significance or impact on disease progression and recovery.

An atypical case of acute kidney injury: Answers

Hemolytic uremic syndrome (HUS) is characterized bymicroangiopathic anemia, thrombocytopenia, and acute kidney injury [1]. In addition, severe HUS can be associated with irreversible renal and CNS complications, leading to chronic kidney disease and permanent neurological deficits [2]. The most common form of HUS is induced by a verocytotoxin/ Shiga toxin (Vtx/Stx)-producing bacteria [3]. Less commonly, HUS can be induced by bacterial (e.g., S. pneumoniae) [3] or viral (e.g., influenza) infections [4]. We report a patient with a severe clinical presentation of HUS following pneumonia (presumed S. pneumoniae infection). Making the correct diagnosis proved to be difficult as the patient presented with unusual findings, including a negative Coombs test and low C3 complement level on two occasions. These findings did not meet the usual diagnostic criteria of S. pneumoniae-induced HUS, which include a positive Coombs test and a normal complement C3 level. While HUS caused by defective complement alternative pathway (CAP) regulation, presents with low serum C3 complement in approximately 75 % of patients [5], patients with the infection-induced types of HUS do not exhibit complement dysregulation, and their C3 levels are normal [3, 6]. In patients with S. pneumoniae-induced HUS, the C3 levels are usually normal, and the Coombs test is positive, owing to antibodies binding to the exposed T-antigen on the surface of red blood cells [7, 8]. Thus, the combination of normal C3 complement levels with a positive Coombs test would confirm the diagnosis of S. pneumoniae-induced HUS [7, 8]. However, complement activation leading to a lower C3 complement can occur even in non-genetic forms of HUS [9], which can be considered an aggravating factor for the disease progression. Furthermore, the Coombs test can be positive in 25 to 90 % of cases [10, 11], indicating that a relatively large proportion of patients with pneumococcal HUS can have a negative Coombs test. This refers to the article that can be found at http://dx.doi.org/10.1007/ s00467-015-3101-y

Delayed Hemolytic Uremic Syndrome Presenting as Diffuse Alveolar Hemorrhage

Hemolytic uremic syndrome (HUS) is defined by the triad of mechanical intravascular hemolytic anemia with schistocytosis, thrombocytopenia and acute renal failure. Pulmonary involvement in HUS is known to be rare. We present the case of a 25-year-old male with diffuse alveolar hemorrhage and myocarditis followed by atypical hemolytic uremic syndrome. In this case, successful treatments included steroid pulse therapy for the fatal alveolar hemorrhage and plasma exchange for the hemolytic uremic syndrome.

Rare case of hemolytic uremic syndrome associated with only one transient low platelet count

Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in children and the incidence of this syndrome is increasing worldwide. The classic triad of features for HUS consists of hemolytic anemia, thrombocytopenia, and acute renal failure. HUS presenting with normal platelet count is extremely rare. There is one case report of a 13-year-old boy presenting with atypical HUS with normal platelet counts. We report a second case of a young 18-year-old girl presenting with HUS and normal platelet counts.

Hemolytic Uremic Syndrome Presenting After Treatment of Endodermal Sinus Tumor

Hemolytic uremic syndrome is a rare multisystem disorder that is caused by infections, preeclampsia, autoimmune disorders, or oral contraceptive agents, and rarely in association with different cancers and chemotherapeutic agents. A 34-year-old woman who presented for evaluation of a pelvic mass received a diagnosis of International Federation of Gynecology and Obstetrics (FIGO) stage 1c endodermal sinus tumor at laparotomy. Three months after receiving 3 courses of bleomycin, etoposide, and cisplatinum, she presented with renal failure, thrombocytopenia, anemia, and severe hypertension. Cancer-associated hemolytic uremic syndrome was diagnosed, and the patient was treated with plasmaphoresis, blood transfusion, and hemodialysis. Cancer-associated hemolytic uremic syndrome has a high mortality rate; thus, prompt diagnosis is critical to survival.

The hemolytic uremic syndrome presenting as bilateral leg ischemia

The hemolytic uremic syndrome in adults is an uncommon clinical entity consisting of microangiopathic hemolytic anemia, thrombocytopenia, and renal dysfunction. A previously healthy 42-year-old man, after a 2-day prodromal phase, developed severe pain and coldness in both legs, with purpura in the face and extremities. On admission, hepatorenal dysfunction and disseminated intravascular coagulation were evident. These complicated signs and symptoms led to nonspecific supportive therapy because of delayed diagnosis. The patient's condition gradually improved except for ischemia of the legs, which progressed into symmetrical necrosis; eventually, bilateral below-knee amputation was required. This is the first reported case of the hemolytic uremic syndrome complicated by bilateral leg ischemia. A presumed cause of the ischemia was disseminated intravascular coagulation, a rare complication of the hemolytic uremic syndrome.

Concurrent Presentation of Hemolytic Uremic Syndrome in Two Adult Siblings: Effects of Plasma Therapy on Hemolysis and Renal Function

We describe 2 sisters who presented with the hemolytic uremic syndrome (HUS) almost simultaneously. In both patients an upper airway infection with Haemophilus influenzae immediately preceding HUS may have been the environmental trigger. Fresh plasma infusion had only minor therapeutic effects but plasma exchange was followed by hematological remissions. One patient stayed dialysis dependent, the other had slow recovery of renal function on prolonged plasma exchange. These case histories suggest that in genetically predisposed patients HUS can be triggered by an infection with H. influenzae. Furthermore, when there is a poor response to plasma infusion recovery may be accelerated by plasma exchange.