Adverse outcomes in obstetric-atypical haemolytic uraemic syndrome: a case series analysis
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29.03.2018 |
Kozlovskaya N.
Korotchaeva Y.
Bobrova L.
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Journal of Maternal-Fetal and Neonatal Medicine |
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2 |
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© 2018 Informa UK Limited, trading as Taylor & Francis Group Objective: The aim of this case series is to raise awareness of obstetric-related atypical haemolytic uraemic syndrome (aHUS) amongst obstetricians and gynaecologists. Study design: Data from 20 consecutive patients, aged 19–38, with obstetric-aHUS manifestation during or immediately after pregnancy are reported. Patients were diagnosed and treatment was initiated between 2012 and 2016. Results: Presentation of aHUS was mainly preceded by preeclampsia and/or haemolysis, elevated liver enzymes and low platelet count syndrome, other obstetric complications, or by diarrhoea. Thrombotic microangiopathy (TMA) was evident in all patients with signs of microangiopathic haemolysis (sharp decline in haemoglobin; mean 67 g/L), elevated lactate dehydrogenase (LDH; mean 2953.1 U/L), schistocytosis, thrombocytopenia (mean platelet count 52.5 × 109/µL), and acute kidney injury (AKI) (hypercreatininaemia, mean 456.4 µmol/L; oliguria or anuria). The majority of patients (80%) initially presented with arterial hypertension. Diagnosis of obstetric-aHUS was complicated, as multiple organs were affected. Time taken to make the diagnosis of aHUS delayed the initiation of fresh-frozen plasma infusions and plasma exchange (80% of patients) and subsequent eculizumab treatment (40% of patients). Maternal mortality was high (35%) as was foetal mortality (25%). Conclusions: Obstetric-aHUS is a serious condition characterized by multiple organ failure (MOF) and a high mortality rate. Presentation of obstetric-aHUS is preceded by various precipitating factors, suggesting pregnancy complications, and not the pregnancy per se, often induce aHUS in women with a genetic predisposition to its development. A delay in the correct diagnosis and initiation of the most effective treatment can have serious consequences, reinforcing the need to raise awareness of obstetric-aHUS.
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ANCA-associated vasculitis and atypical hemolytic uremic syndrome in a patient with DGKE mutation
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01.01.2018 |
Bulanov N.
Kozlovskaya N.
Moiseev S.
Novikov P.
Shchegoleva E.
Meshkov A.
Kuznetsova E.
Bobrova L.
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Nephrology and Dialysis |
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0 |
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© 2018 S. Karger AG.All right reserved. We present a clinical case of a 34 years old female patient who simultaneously developed two rare conditions: microscopic polyangiitis and atypical hemolytic uremic syndrome (aHUS) associated with a polymorphism in diacylglycerol kinase-ε gene (DGKE), which seems to be the first case of aHUS associated with DGKE mutation in an adult patient. We suggest that the patient experienced chronic subclinical course of thrombotic microangiopathy (TMA) since adolescence, because persistent proteinuria and slowly progressive chronic kidney disease were first found when she was at the age of 13. She developed ANCA-associated vasculitis at the age of 34 with dialysis-dependent renal failure and alveolar hemorrhage that were accompanied by an acute episode of TMA. Treatment with high-dose of corticosteroids, cyclophosphamide and plasmapheresis was initiated. Alveolar hemorrhage have been resolved. However, severe hypertension, hemolytic anemia and thrombocytopenia persisted despite treatment. Plasma resistance was considered to be an indication for treatment with eculizumab, which proved to be beneficial. However, kidney function did not recover. Possible interactions between complement system, DGKE and their possible role in the pathogenesis of TMA are discussed.
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Preeclampsia and lower maternal mortality in Russia
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01.01.2018 |
Sidorova I.
Nikitina N.
Unanyan A.
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Akusherstvo i Ginekologiya (Russian Federation) |
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2 |
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© Bionika Media Ltd. Objective. To study the most important aspects of maternal mortality from preeclampsia, eclampsia, the current clinical features of the most severe forms of this complication of pregnancy, as well as main defects in rendering qualified medical care, including those in the development of complications. Subjects and methods. A confidential audit of maternal mortality was conducted in different regions of the Russian Federation in 2013-2015. A total of 270 anonymous copies of primary medical records were analyzed. Results. The features of development and progression of the most severe forms of preeclampsia and eclampsia were identified. The development of preeclampsia in the presence of previous extragenital diseases was seen in most clinical cases. Early clinical manifestation is characteristic in the vast majority of women; and the non-classical (atypical) clinical picture of the disease is also common. Conclusion. Practical activities are proposed, which are aimed at reducing maternal mortality from preeclampsia in Russia.
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Ocular thrombotic microangiopathy in atypical hemolytic-uremic syndrome (a clinical case study)
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01.01.2018 |
Smirnova T.
Sheludchenko V.
Kozlovskaya N.
Kazaryan E.
Andzhelova D.
Sherstneva L.
Velieva I.
Kuchieva A.
Akaeva M.
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Vestnik oftalmologii |
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0 |
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The article presents a clinical observation of ocular thrombotic microangiopathy in atypical hemolytic-uremic syndrome - a rare genetic disease characterized by systemic thrombosis caused by uncontrolled activation of alternative complement pathway. A typical manifestation of this ocular lesion in this disease is bilateral Purtscher-like retinopathy. Timely diagnostics of atypical hemolytic-uremic syndrome, including ophthalmologic examination, determines the early start of a highly effective pathogenetic therapy with complement inhibitor eculizumab.
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The genetic characteristics of adult patients with atypical hemolytic uremic syndrome in Russia
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01.01.2018 |
Demyanova K.
Kozlovskaya N.
Bobrova L.
Korotchaeva Y.
Akaeva M.
Shatalov P.
Korostin D.
Ilinsky V.
Borisevich D.
Krasnenko A.
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Nephrology and Dialysis |
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© 2018 S. Karger AG.All right reserved. Atypical hemolytic-uremic syndrome is a rare life-threatening disease from the group of thrombotic microangiopathies, caused by the hyperactivation of the complement system. In the most cases it is associated with genetic disorders in the cluster of complement genes. Currently, a large number of different variants of the complement system genes associated with the development of aHUS are described in different countries. In our country, data on the genetic features of pediatric aHUS patients and obstetric aHUS have been published. Genetic changes in the complement system in adult aHUS patients in Russia were not so far presented. Aim: studying the genetic profile of the complement system in adult patients with aHUS. Materials and methods. The study included 20 patients with aHUS: 9 men (45%) and 11 women (55%). All patients underwent molecular-genetic analysis (search for mutations in the clinically significant part of the human genome − exome) by sequencing (Genotek laboratory). Genes CFH, CFHR1-5, CFB, CFI, DGKE, THBD, MCP, C3, С5, ADAMTS13 were analyzed. Results. Genetic variants (mutations) of the complement system associated with aHUS development were detected in 5 patients (25%). Two patients had one mutation, 2 patients − 2 and one patient - 3 mutations. In 3 patients, different genetic variants of the C3 gene were found. Two patients showed the same changes in the CFHR5 gene. In 3 patients, rare changes in the ADAMTS-13 gene, clinically associated with the development of thrombotic thrombocytopenic purpura were found. In all 20 patients, genetic variants of the complement genes with unknown clinical significance were identified, including rare variants of the C3 gene in 9 patients (45%).
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Effective treatment due to misconception in the diagnosis
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01.01.2018 |
Korotchaeva Y.
Kozlovskaya N.
Shifman E.
Kuzhuget N.
Kara-Sal S.
Oorzhak O.
Badarchy M.
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Nephrology and Dialysis |
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© 2018 S. Karger AG.All right reserved. The development of thrombotic microangiopathy (TMA) during pregnancy and in postpartum period requires differential diagnosis between classical obstetric TMA (preeclampsia and HELLP-syndrome) and TMA, for which pregnancy can become a trigger of atypical hemolytic-uremic syndrome (аHUS), thrombotic thrombocytopenic purpura (TTP), obstetric sepsis with DIC-syndrome and catastrophic antiphospholipid syndrome (CAPS) in order to determine treatment strategy. Complement blocking treatment with eculizumab requires aHUS diagnosis, in the pathogenesis of which the main role is played by the uncontrolled activation of the alternative complement pathway. Complement dysregulation occurs in TMAs different from primary aHUS. Short treatment with eculizumab can result in a rapid improvement of patients with secondary aHUS in whom TMA has persisted and renal function worsened despite treatment of the TMA-inducing condition. This observation demonstrates the first experience of successful postpartum catastrophic antiphospholipid syndrome (CAPS) treatment with complement-blocking drug ekulizumab in Russia. Underestimation of the importance of detected laboratory changes and information about a burdened obstetric anamnesis led to the mistaken diagnosis of atypical HUS, which served as the basis for the ekulizumab prescription, without a doubt, saved the patient's life. The role of the complement activation in the pathogenesis of CAPS is discussed. A conclusion is made that the use of complement-blocking therapy in combination with anticoagulants primarily is advised in the obstetric CAPS patients.
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