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1.
Crit Care Clin ; 36(2): 333-356, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32172817

RESUMO

Hemolytic uremic syndrome is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Disseminated intravascular coagulation, thrombotic thrombocytopenic purpura, and hemolytic uremic syndrome have a similar clinical presentation. Diagnostic needs to be prompt to decrease mortality, because identifying the different disorders can help to tailor specific, effective therapies. However, diagnosis is challenging and morbidity and mortality remain high, especially in the critically ill population. Development of clinical prediction scores and rapid diagnostic tests for hemolytic uremic syndrome based on mechanistic knowledge are needed to facilitate early diagnosis and assign timely specific treatments to patients with hemolytic uremic syndrome variants.


Assuntos
Estado Terminal , Síndrome Hemolítico-Urêmica/diagnóstico , Síndrome Hemolítico-Urêmica/etiologia , Algoritmos , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome Hemolítico-Urêmica Atípica/genética , Síndrome Hemolítico-Urêmica Atípica/terapia , Diagnóstico Diferencial , Diagnóstico Precoce , Síndrome Hemolítico-Urêmica/genética , Síndrome Hemolítico-Urêmica/terapia , Humanos , Prognóstico , Fatores de Risco , Toxina Shiga/toxicidade
2.
J Am Soc Nephrol ; 31(2): 241-256, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31980588

RESUMO

Sequence and copy number variations in the human CFHR-Factor H gene cluster comprising the complement genes CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, and Factor H are linked to the human kidney diseases atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy. Distinct genetic and chromosomal alterations, deletions, or duplications generate hybrid or mutant CFHR genes, as well as hybrid CFHR-Factor H genes, and alter the FHR and Factor H plasma repertoire. A clear association between the genetic modifications and the pathologic outcome is emerging: CFHR1, CFHR3, and Factor H gene alterations combined with intact CFHR2, CFHR4, and CFHR5 genes are reported in atypical hemolytic uremic syndrome. But alterations in each of the five CFHR genes in the context of an intact Factor H gene are described in C3 glomerulopathy. These genetic modifications influence complement function and the interplay of the five FHR proteins with each other and with Factor H. Understanding how mutant or hybrid FHR proteins, Factor H::FHR hybrid proteins, and altered Factor H, FHR plasma profiles cause pathology is of high interest for diagnosis and therapy.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/genética , Complemento C3/análise , Glomerulonefrite Membranoproliferativa/genética , Síndrome Hemolítico-Urêmica Atípica/etiologia , Fator H do Complemento/química , Fator H do Complemento/genética , Fator H do Complemento/fisiologia , Variações do Número de Cópias de DNA , Predisposição Genética para Doença , Variação Genética , Glomerulonefrite Membranoproliferativa/etiologia , Humanos , Rim/patologia , Família Multigênica
3.
Transplant Proc ; 52(1): 146-152, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31924403

RESUMO

Atypical hemolytic uremic syndrome (aHUS) after kidney transplantation is rare and carries a grave outcome. We present a single-center experience of all aHUS cases since the program's inception. Six patients were diagnosed with aHUS, all after kidney transplants, except for 1 patient. All had nonreactive crossmatches. Delayed graft function (DGF) occurred in 2 patients. Five patients developed aHUS after transplant; 4 (80%) of these patients manifested aHUS ≤ 14 days. All were confirmed by allograft biopsy. Genetic testing was abnormal in all patients except for 1 patient. Actual patient and graft survival during the first year was 100% and 83.3%, respectively. A single graft was lost early in the study secondary to aHUS (eculizumab was not used in the treatment process). Prophylactic and therapeutic use of eculizumab salvaged all other cases. At 1 year, mean creatinine level was 1.9 mg/dL (range, 1.3-2.5). After 6 months of eculizumab treatment (halted in 2 cases) 1 patient had recurrence 2 months later and eculizumab was restarted. However, graft function continued to worsen, and the graft was ultimately lost at 20 months after kidney transplantation. High index of suspicion, prompt diagnosis, and utilization of eculizumab are key to successful salvage of allografts in cases of aHUS after kidney transplantation. aHUS can be prevented by prophylactic use of eculizumab. It still needs to be determined when and if eculizumab therapy can be safely discontinued.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/tratamento farmacológico , Inativadores do Complemento/uso terapêutico , Transplante de Rim/efeitos adversos , Complicações Pós-Operatórias/tratamento farmacológico , Adulto , Síndrome Hemolítico-Urêmica Atípica/sangue , Síndrome Hemolítico-Urêmica Atípica/etiologia , Biópsia , Creatinina/sangue , Feminino , Sobrevivência de Enxerto , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/sangue , Complicações Pós-Operatórias/etiologia , Recidiva
4.
BMJ Case Rep ; 12(9)2019 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-31519719

RESUMO

Atypical haemolytic uraemic syndrome (aHUS) is a disease of complement dysregulation and can be fatal if not treated in a timely manner. Although normally associated with triggers such as infection or pregnancy, this case demonstrates acute pancreatitis as the triggering event. The patient's initial presentation of thrombocytopaenia and acute renal failure was first attributed to a systemic inflammatory response syndrome due to pancreatitis, but with detailed history and further laboratory investigation, we were able to show that patient was having symptoms associated with aHUS. On early recognition of aHUS, this patient was able to receive the proper standard of care with eculizumab and had a full recovery while preventing renal failure. When patients present with thrombocytopaenia and renal failure in acute pancreatitis, we want to ensure physicians keep aHUS on the differential.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/etiologia , Pancreatite/complicações , Insuficiência Renal/etiologia , Trombocitopenia/etiologia , Doença Aguda , Adulto , Anticorpos Monoclonais Humanizados/administração & dosagem , Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/tratamento farmacológico , Inativadores do Complemento/administração & dosagem , Inativadores do Complemento/uso terapêutico , Diagnóstico Diferencial , Humanos , Masculino , Pancreatite/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
6.
G Ital Nefrol ; 36(2)2019 Apr.
Artigo em Italiano | MEDLINE | ID: mdl-30983177

RESUMO

Thrombotic microangiopathies (TMA) are a group of diseases that can complicate pregnancy and threaten the lives of both the mother and the fetus. Several conditions can lead to TMA, including thrombotic thrombocytopenic purpura (TTP), HELLP syndrome and hemolytic uremic syndrome (HUS). We describe the case of a 39-year-old woman who presented a HELLP syndrome in the immediate postpartum period. The patient had acute kidney injury (AKI), increased LDH, unmeasurable haptoglobin levels and hypocomplementemia. Her ADAMTS13 value was normal, thus ruling out TTP. Shiga toxin tests were negative, so HUS associated with E. coli was also ruled out. HELLP syndrome and atypical hemolytic-uremic syndrome (aHUS) remained the most probable diagnosis. In the days following childbirth, the patient's transaminase and bilirubin levels normalized while the anemia persisted, as did the AKI, resulting in the institution of dialysis treatment. A diagnosis of aHUS was made and therapy with eculizumab was started. The patient's blood counts progressively improved, urine output was restored, her indices of renal function also concomitantly improved and dialysis was interrupted. A rash appeared after the third administration of eculizumab and the treatment was suspended. The patient is currently being followed up and has not relapsed. At thirteen months after delivery her renal function is normal as are her platelet counts, LDH, haptoglobin levels and proteinuria. Tests for mutations in the genes that regulate complement activity were negative. We believe that childbirth triggered the HELLP syndrome, which in turn brought about and sustained the HUS. In fact, the patient's liver function improved right after delivery, while her kidney injury and hemolysis persisted, and she also had an excellent response to eculizumab. To our knowledge, no other cases of HELLP syndrome associated with haemolytic uremic syndrome during pregnancy have been reported in literature, nor have cases in which treatment with eculizumab was limited to only three administrations.


Assuntos
Lesão Renal Aguda/complicações , Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome HELLP/etiologia , Adulto , Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/terapia , Inativadores do Complemento/uso terapêutico , Feminino , Síndrome HELLP/terapia , Humanos , Doenças do Sistema Imunitário/complicações , Período Pós-Parto , Gravidez , Diálise Renal
7.
BMJ Case Rep ; 12(1)2019 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-30659006

RESUMO

Pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS) is a rare condition characterised by microangiopathic haemolytic anaemia, thrombocytopenia and renal failure. It accounts for approximately 7% of total HUS cases. Here, we present a case of recurrent P-aHUS in a 25-year-old Hispanic woman. Pregnancy was the clear trigger in both instances, and the disease manifested in first week of the postpartum period. Because of her significant obstetric history, a multidisciplinary approach was adopted to monitor her second pregnancy antepartum and post partum. As the patient developed recurrence of P-aHUS 4 days after her delivery, she was immediately administered eculizumab within few hours of disease manifestation. The patient normalised her haematological parameters within 1 week but sustained dialysis-requiring renal failure for a total of 6 weeks. This case highlights the advances as well as the ongoing uncertainties, especially with respect to the use of eculizumab, in this rare but morbid disease.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Adulto , Síndrome Hemolítico-Urêmica Atípica/etiologia , Feminino , Humanos , Período Pós-Parto , Gravidez , Resultado do Tratamento
8.
Transplantation ; 103(2): e48-e51, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30365467

RESUMO

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is life-threatening condition particularly when complicating allograft hematopoietic stem cell transplant (HSCT). In the past, the outcome was very poor with the majority of patients reaching end-stage renal disease or dying with little or no chances of kidney transplant (KTx) due to the high risk of relapse. The availability of C5 inhibition has opened up significant therapeutic opportunities and has improved the outcome particularly if complement dysregulation (CD) is the underlying pathogenetic mechanism. METHODS: We describe a peculiar case of a girl with aHUS complicating HSCT and her subsequent successful KTx received from the same donor thus performed without immunosuppression but anti-C5 inhibition. RESULTS: Soon after HSCT performed for acute lymphoblastic leukemia, the patient developed a TMA due to CD and reached end-stage renal disease. After 2 years on dialysis, the patient received a KTx from her father who was already the HSCT donor. Given the full chimerism, no immunosuppressive agent was prescribed except a short (2 days) course of steroids and eculizumab to prevent aHUS relapse. Nine months after the KTx, the patient is well with normal renal function, no immunosuppression and continues eculizumab prevention of aHUS (1 infusion every 21 days). CONCLUSIONS: All patients with transplant-associated thrombotic microangiopathy should be screened for the causes of CD. C5 inhibition with eculizumab is an important therapeutic resource to manage this complication. When KTx is necessary, immunosuppression can be safely withhold in case of same donor for both grafts and documented full chimerism.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/etiologia , Complemento C5/antagonistas & inibidores , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Imunossupressão , Transplante de Rim , Doadores de Tecidos , Adulto , Feminino , Humanos , Transplante de Rim/efeitos adversos , Microangiopatias Trombóticas/etiologia
9.
Ther Apher Dial ; 23(1): 4-21, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30294946

RESUMO

Atypical hemolytic uremic syndrome (aHUS), a rare variant of thrombotic microangiopathy, is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. The condition is associated with poor clinical outcomes with high morbidity and mortality. Atypical HUS predominantly affects the kidneys but has the potential to cause multi-organ system dysfunction. This uncommon disorder is caused by a genetic abnormality in the complement alternative pathway resulting in over-activation of the complement system and formation of microvascular thrombi. Abnormalities of the complement pathway may be in the form of mutations in key complement genes or autoantibodies against specific complement factors. We discuss the pathophysiology, clinical manifestations, diagnosis, complications, and management of aHUS. We also review the efficacy and safety of the novel therapeutic agent, eculizumab, in aHUS, pregnancy-associated aHUS, and aHUS in renal transplant patients.


Assuntos
Anticorpos Monoclonais Humanizados/farmacologia , Síndrome Hemolítico-Urêmica Atípica , Via Alternativa do Complemento , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome Hemolítico-Urêmica Atípica/fisiopatologia , Síndrome Hemolítico-Urêmica Atípica/terapia , Via Alternativa do Complemento/efeitos dos fármacos , Via Alternativa do Complemento/genética , Via Alternativa do Complemento/imunologia , Gerenciamento Clínico , Humanos , Fatores Imunológicos/farmacologia
10.
Inflamm Bowel Dis ; 25(4): e27-e28, 2019 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-29931191

RESUMO

Hemolytic-uremic syndrome (HUS) is defined as the triad of nonimmune hemolytic anemia, thrombocytopenia, and acute renal failure, in which the underlying lesions are mediated by systemic thrombotic microangiopathy (TMA). The atypical HUS (aHUS) can be considered a subtype of HUS that is rare in childhood and has a worse prognosis. Recent findings have established that the TMA in aHUS are consequences of the disregulation of the complement activation, leading to endotelial damage mediated by the complement terminal pathway.1, 2 Likewise, previous research suggests an important role for the deregulation of the alternative complement cascade in the pathogenesis of inflammatory bowel disease (IBD).3, 4 We report the case of a patient with ulcerative colitis (UC) who developed aHUS during a flare-up of her chronic disease. This association is extremely infrequent and had been previously reported in only 1 patient.5.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/patologia , Colite Ulcerativa/complicações , Adolescente , Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome Hemolítico-Urêmica Atípica/terapia , Feminino , Humanos , Prognóstico
11.
J Pediatr Hematol Oncol ; 41(1): e63-e67, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29702545

RESUMO

Atypical hemolytic uremic syndrome (aHUS) is characterized by uncontrolled complement activation leading to thrombotic microangiopathy and severe end-organ damage. The most common trigger for an episode of aHUS in the background of genetic deregulation of the alternative complement pathway is systemic infection. There are only 4 reported cases of aHUS triggered by influenza B thus far. Current accepted therapies for aHUS include plasma exchange and eculizumab. We describe a unique patient with aHUS with a rare membrane cofactor protein mutation triggered by influenza B infection, who achieved complete remission with treatment with high-dose corticosteroids after failure of plasmapheresis.


Assuntos
Corticosteroides/administração & dosagem , Anticorpos Monoclonais Humanizados/administração & dosagem , Síndrome Hemolítico-Urêmica Atípica , Vírus da Influenza B , Influenza Humana , Proteína Cofatora de Membrana/genética , Mutação , Troca Plasmática , Adolescente , Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome Hemolítico-Urêmica Atípica/genética , Síndrome Hemolítico-Urêmica Atípica/terapia , Humanos , Influenza Humana/complicações , Influenza Humana/genética , Influenza Humana/terapia , Masculino
12.
Transplant Proc ; 50(10): 3483-3486, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30577225

RESUMO

OBJECTIVE: There are no specific recommendations for therapeutic plasma exchange (TPE) in children after renal transplantation. The purpose of this study was to report the experience with TPE in a pediatric transplant setting. MATERIALS AND METHODS: 59 patients (mean age 12.5 ± 4.5 years) undergoing renal transplantation. Indications for TPE included the recurrence of nephrotic syndrome (NS; n = 30) and atypical hemolytic uremic syndrome (n = 6), chronic antibody-mediated rejection (cAMR; n = 20), sensitization (n = 2), and immune thrombocytopenia (n = 1). The single-filtration TPE was performed in all cases. In 74.7% of patients, fresh frozen plasma was used as a replacement fluid. In 25.3% of patients, 4% albumin solution was used as a replacement fluid. Criteria for TPE efficacy included a decrease of proteinuria and normalization of renal function in NS; a normalization of platelet count, C3, and hemoglobin concentration in aHUS; improvement in renal function; and reduction of donor-specific antibodies in cAMR; and removal of antiplatelet antibodies in immune thrombocytopenia. RESULTS: Efficacy results for patients with NS: 59.3% achieved remission, 25.9% achieved partial remission, and 14.8% achieved no remission, respectively. For patients with atypical hemolytic uremic syndrome there was remission in 66.6% and no remission in 33.4%. For patients with cAMR there was remission in 75% and no remission in 25%. Antiplatelet antibodies disappeared after TPE in 1 patient. In 9% of TPE procedures, minor complications were noted. All patients were on posttransplant maintenance immunosuppression and several children received additional treatment (intravenous immunoglobulin therapy or rituximab) during TPE therapy. CONCLUSION: TPE therapy (combined with immunosuppression) was an effective tool in most pediatric cases after renal transplantation with low incidence of minor adverse events.


Assuntos
Imunossupressão/métodos , Transplante de Rim/efeitos adversos , Troca Plasmática/métodos , Complicações Pós-Operatórias/terapia , Adolescente , Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome Hemolítico-Urêmica Atípica/terapia , Criança , Feminino , Rejeição de Enxerto/terapia , Humanos , Masculino , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/terapia , Púrpura Trombocitopênica Idiopática/etiologia , Recidiva , Estudos Retrospectivos , Resultado do Tratamento
14.
Ann Transplant ; 23: 631-638, 2018 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-30190449

RESUMO

BACKGROUND Atypical hemolytic uremic syndrome (aHUS), a rare thrombotic microangiopathy, is characterized by hemolytic anemia, thrombocytopenia, and acute renal failure. Caused by genetic mutations in the alternative complement cascade, aHUS often will culminate in end-stage renal disease and occasionally death. Renal transplantation in aHUS patients has been contraindicated in the past due to the recurrence risk, with certain immunosuppressive regimens being commonly attributed. In this study, we analyzed the association between aHUS and immunosuppressive agents so as to offer evidence for the use of certain immunosuppressive regimens in renal transplant recipients. MATERIAL AND METHODS Our study is a retrospective analysis using data from the United States Renal Data System from 2004 to 2012. A cohort of renal transplantation patients diagnosed with aHUS were identified to include in the study. The primary endpoint was the determination of aHUS incidence in renal transplant recipients due to various immunosuppressive agents. The secondary endpoints were to check the relationship between the drug type as well as the demographic variables that increase the risk for aHUS. RESULTS It was found that there was a higher usage of sirolimus (P=0.015) and corticosteroids (P=0.030) in the aHUS patients compared to patients in other diagnoses group. CONCLUSIONS There was a higher usage of sirolimus and corticosteroids in renal transplantation patients diagnosed with aHUS. Unfortunately, due to the rarity of this disease, the sample size was small (n=14). Despite the small sample size, this data analysis throws light on the relationship between aHUS and immunosuppressive agents in renal transplant recipients, although we still have much to learn.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/epidemiologia , Imunossupressores/efeitos adversos , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Corticosteroides/efeitos adversos , Adulto , Síndrome Hemolítico-Urêmica Atípica/etiologia , Feminino , Humanos , Imunossupressão/efeitos adversos , Incidência , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Sirolimo/efeitos adversos , Transplantados
15.
Rev Med Chil ; 146(6): 770-779, 2018 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-30148909

RESUMO

Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathy, characterized by microangiopathic hemolytic anemia, thrombocytopenia and renal involvement. It causes end stage renal disease requiring dialysis in most affected patients. It mainly affects young adults (contrary to what was thought years ago). When aHUS is primary, the cause is a genetic mutation in the alternative complement pathway. Instead, secondary aHUS is caused by external factors that trigger the disease by themselves or in combination with a genetic vulnerability. The type of mutation determines the severity of the disease, prognosis, response to therapy and renal transplantation. Advances in the understanding of renal diseases associated with complement defects and the development of specific biologic therapies changed the course of this disease. Eculizumab is internationally approved for the treatment of primary aHUS. Its inhibitory action on the complement cascade leads to hematologic remission and restoration of renal function. We present a review of aHUS detailing its etiology, pathogenesis, clinical presentation, diagnosis and treatment.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome Hemolítico-Urêmica Atípica/terapia , Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Humanos , Transplante de Rim , Mutação
16.
Ital J Pediatr ; 44(1): 90, 2018 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-30103768

RESUMO

BACKGROUND: Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare. CASE PRESENTATION: We describe the case of a 2-years old child, previously in good health, admitted to the hospital with severe respiratory symptoms, rapid worsening of clinical conditions, O2 desaturation and palmo-plantar edema. The patient showed PAH and laboratory findings compatible with aHUS. cblC defect, an inborn error of metabolism, was identified as the cause of all the symptoms described (cardiac, respiratory and renal involvement). Results of neonatal screening for inborn errors of metabolism had been negative. Administration of IM OHCbl (intramuscular hydroxocobalamin), oral betaine and symptomatic treatment with diuretics and anti-hypertensive systemic and pulmonary drugs induced dramatic improvement of both cardiac and systemic symptoms. CONCLUSIONS: In this case of cblC defect the metabolic treatment completely reverted symptoms of aHUS and PAH. The course was favorable, and the prognosis is what we foresee for the future.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/complicações , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/etiologia , Homocistinúria/complicações , Homocistinúria/diagnóstico , Hipertensão Pulmonar/etiologia , Erros Inatos do Metabolismo dos Aminoácidos/terapia , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/terapia , Pré-Escolar , Homocistinúria/terapia , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/terapia , Masculino
17.
Crit Care Med ; 46(9): e904-e911, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29979220

RESUMO

OBJECTIVES: Thrombotic microangiopathy syndromes are a heterogeneous group of severe diseases that often require ICU admission. Prompt initiation of targeted therapies is required for atypical hemolytic uremic syndrome and thrombotic thrombocytopenic purpura, whereas there is no specific consensus therapy for Shiga toxin-associated hemolytic uremic syndrome. We sought to compare the characteristics of Shiga toxin-associated hemolytic uremic syndrome, atypical hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura patients at admission in the ICU to allow early differentiation of Shiga toxin-associated hemolytic uremic syndrome from other thrombotic microangiopathy syndromes and help to tailor initial treatment. DESIGN: Retrospective cohort study. SETTING: Two ICUs part of the French reference center for thrombotic microangiopathy syndromes. PATIENTS: Adult patients presenting with features of thrombotic microangiopathy syndromes. Other causes than Shiga toxin-associated hemolytic uremic syndrome, atypical hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura were excluded. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: From September 2003 to January 2017, 236 thrombotic microangiopathy syndrome patients were admitted, including 12 Shiga toxin-associated hemolytic uremic syndrome, 21 atypical hemolytic uremic syndrome, and 91 thrombotic thrombocytopenic purpura. Shiga toxin-associated hemolytic uremic syndrome patients were older than other thrombotic microangiopathy syndromes patients (64 yr [interquartile range, 50-72 yr] vs 42 yr [31-54 yr]; p = 0.007) and presented with more frequent digestive symptoms (92% vs 42%; p < 0.001), especially nonbloody diarrhea and vomiting. Biologically, Shiga toxin-associated hemolytic uremic syndrome patients displayed higher fibrinogen (490 mg/dL [460-540 mg/dL] vs 320 mg/dL [240-410 mg/dL]; p = 0.003) and creatinine levels (2.59 mg/dL [2.12-3.42 mg/dL] vs 1.26 mg/dL [0.61-1.90 mg/dL]; p < 0.001), and less marked anemia (hemoglobin level, 9.7 g/dL [8.7-11.9 g/dL] vs 7.7 g/dL [6.3-9.1 g/dL]; p < 0.001). Forty-two percent (n = 5) required renal replacement therapy, and 83% (n = 10) were treated with plasma exchange before the distinction from other thrombotic microangiopathy syndromes could be made. CONCLUSIONS: Adult Shiga toxin-associated hemolytic uremic syndrome patients are older, present more frequently with digestive symptoms and display higher hemoglobin and fibrinogen levels than other thrombotic microangiopathy syndromes. However, overlap across the three thrombotic microangiopathy syndromes remains substantial, putting forward the need to implement early plasma therapy until thrombotic thrombocytopenic purpura and atypical hemolytic uremic syndrome can be ruled out.


Assuntos
Síndrome Hemolítico-Urêmica/diagnóstico , Síndrome Hemolítico-Urêmica/etiologia , Toxina Shiga , Microangiopatias Trombóticas/diagnóstico , Microangiopatias Trombóticas/etiologia , Adulto , Idoso , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/etiologia , Estudos de Coortes , Estado Terminal , Diagnóstico Diferencial , Diagnóstico Precoce , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Púrpura Trombocitopênica Trombótica/diagnóstico , Púrpura Trombocitopênica Trombótica/etiologia , Estudos Retrospectivos , Escherichia coli Shiga Toxigênica , Síndrome
18.
Pediatr Clin North Am ; 65(3): 509-525, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29803280

RESUMO

Atypical hemolytic uremic syndrome is a rare life-threatening disease of unregulated complement activation. Untreated, the prognosis is generally poor; more than one-half of patients die or develop end-stage renal disease within 1 year. Atypical hemolytic uremic syndrome is characterized by thrombotic microangiopathy with evidence of hemolysis, thrombocytopenia, and renal impairment. This systemic disease affects the kidneys, brain, heart, lungs, gastrointestinal tract, pancreas, and skin. Acquired and genetic abnormalities of complement regulation may be identified in approximately 70% of patients. Plasma therapy is generally ineffective. Eculizumab blocks terminal complement activation, prevents complement-mediated organ damage, and is currently recommended as front-line therapy.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome Hemolítico-Urêmica Atípica/terapia , Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Transfusão de Componentes Sanguíneos , Humanos , Plasma , Plasmaferese
20.
Med Clin (Barc) ; 151(8): 329-335, 2018 10 23.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29699703

RESUMO

Haemolytic uremic syndrome (HUS) is characterised by microangiopathic haemolytic anaemia with acute kidney injury. It is currently classified into two main categories: Shiga-toxin producing E. coli-hemolytic uremic syndrome (STEC-HUS) and atypical haemolytic uremic syndrome (aHUS). Endothelial cell damage is the common pathway in HUS to developing thrombotic microangiopathy. Atypical HUS includes primary, secondary and aHUS due to metabolic diseases. In the majority of aHUS cases, hyperactivity of the alternative complement pathway plays a central role. Therefore, treatment is based on complement inhibitors like eculizumab, a drug that has revolutionised the natural history of the disease. Relapses are frequent after kidney transplant and thus confer a poor prognosis.


Assuntos
Síndrome Hemolítico-Urêmica , Lesão Renal Aguda/etiologia , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome Hemolítico-Urêmica Atípica/patologia , Síndrome Hemolítico-Urêmica Atípica/terapia , Síndrome Hemolítico-Urêmica/diagnóstico , Síndrome Hemolítico-Urêmica/etiologia , Síndrome Hemolítico-Urêmica/patologia , Síndrome Hemolítico-Urêmica/terapia , Humanos , Escherichia coli Shiga Toxigênica , Microangiopatias Trombóticas/classificação , Microangiopatias Trombóticas/diagnóstico , Microangiopatias Trombóticas/etiologia , Microangiopatias Trombóticas/patologia
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