Репозиторий Университета

© 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.

© 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.

© 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.

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.

© 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%).

© 2018 Izdatel'stvo Meditsina. All Rights Reserved. Introduction. Alzheimer's disease (AD) is the most common neurodegenerathe disease in the population. Often, patients with AD have a combined brain lesion of vascular etiology (cerebral microangiopathy). Arterial blood spin labeling (ASL - Arterial spin labeling) is one of the most modem and promising methods for quantifying cerebral perfusion in patients with AD. Objective. To assess regional cerebral blood flow (CBF) using the ASL method in patients with AD with chronic cerebral ischemia - cerebral microangiopathy (CMA) and without it. Material and methods. A group of 20patients (mean age 66 ± 10 years), consisting of 11 patients with AD without CAIA and 9patients with AD with CMA, was examined. The study was conducted on a Siemens Magnetom Skyra magnetic resonance imaging scanner with a magnetic field induction of3T. The examination protocol included an impulse sequence of arterial blood spin labeling. Using the software for postprocessing data processing Olea Medical Sphere 3.0, the indicators of regional cerebral blood flow in various parts of the gray matter of the brain were measured in a manual mode. A neuro-psychological study was performed, confirming a presence of mild to moderate dementia in all patients. Results. A decrease of CBF was revealed in AD patients with CAIA in comparison with AD patients without CMA. The lowest CBF were found in the upper temporal; middle temporal; occipital-temporal; upper frontal and angular gyrus. No correlation was found between CBF measures and neuropsychological results. C onclusion. ASL is a sensitive method in assessing cerebral perfusion in AD patients.

© 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.

© Team of authors, 2018. Objective. To investigate the efficacy of divaza in outpatients with cognitive disorders and chronic brain ischemia (CBI). Material and methods. The non-interventional observational program included the data of 2583 outpatients with CBI from 30 cities (8 federal okrugs of the Russian Federation) who were on outpatient neurological treatment and received divaza in a dose of 2 tablets three times a day from Oct 2016 to Jan 2017. Cognitive functions were evaluated using the MoCA scale before and after 3 months of treatment. Results and conclusion. Cognitive disorders were identified in 90.7% of patients (<26 МоСА scores). After treatment, the mean MoCA score increased from 19.58 ± 5.13 to 23.99 ± 4.21 (p<0.0001), the number of patients with normal cognitive functions rate (≥26 scores) increased from 9.3 to 41.3%, the number of patients with marked cognitive impairment decreased. The drug was well-tolerated by old and very old patients, adverse events were observed rarely (0.6% of cases). The majority of doctors (88.4%) noticed the effect of divaza as significant improvement or improvement, and 89.6% of patients valued the effect to be excellent or good. The use of divaza, the drug with endothelioprotective and nootropic effects, is pathogenetically justified and promising in patients with cognitive disorders of vascular etiology.