Атипичный гемолитикоуремический синдром (аГУС) ультраредкое (орфанное) заболевание прогрессирующего течения, представляющее собой системную тромботическую микроангиопатию (ТМА) вследствие хронической неконтролируемой активации альтернативного пути комплемента. В настоящее время установлено, что генетические аномалии комплемента, которые раньше рассматривали как основную причину заболевания, являются лишь фактором, предрасполагающим к возникновению ТМА. Классическую триаду клинических проявлений аГУС составляют тромбоцитопения, микроангиопатическая гемолитическая анемия и острое повреждение почек. У большинства пациентов независимо от возраста отмечается артериальная гипертензия, основными причинами которой являются гиперренинемия вследствие ишемии ткани почек, обусловленной ТМА, и перегрузка объемом при наличии олиго/анурии. Атипичный ГУС представляет собой системную ТМА, при которой могут поражаться не только почки, но и другие жизненно важные органы головной мозг, сердце, легкие, пищеварительный тракт, глаза и др. Диагноз аГУС это диагноз исключения. Он устанавливается на основании характерной клинической картины после исключения других форм ТМА, как первичных, так и вторичных. Для исключения тромботической тромбоцитопенической пурпуры (ТТП) всем больным с ТМА необходимо определение активности ADAMTS13: снижение ее до 10 и менее является диагностическим маркером ТТП. У пациентов с аГУС и другими ТМА активность ADAMTS13 может быть снижена, однако всегда превышает 10. Инновационным подходом к лечению аГУС, используемым в клинической практике в течение последнего десятилетия, стало применение экулизумаба препарата группы комплеменингибирующих антител, который является препаратом патогенетической терапии аГУС. Экулизумаб является средством первой линии для лечения детей с установленным диагнозом аГУС, при семейном характере заболевания, наличии экстраренальных проявлений. Совершенствование методов диагностики и внедрение новых подходов к лечению позволяет быстрее заподозрить и купировать проявления аГУС, добиться стойкой ремиссии и улучшить прогноз. Atypical hemolytic uremic syndrome (aHUS) is an ultra rare (orphan) progressive disease that is a systemic thrombotic microangiopathy (TMA) due to chronic uncontrolled activation of the alternative complement pathway. It is currently established that complement genetic abnormalities that were previously considered the main cause of the disease, are only a factor predisposing to TMA occurrence. The classic triad of aHUS clinical manifestations is thrombocytopenia, microangiopathic hemolytic anemia andacute kidney damage. Most patients, regardless of age, have arterial hypertension the main reasons of hypertension are hyperreninemia (due to kidney tissue ischemia because of TMA) and volume overload in the presence of oligo/anuria. Atypical HUS is a systemic TMA that affected not only the kidneys, but also other vital organs brain, heart, lungs, digestive tract, eyes, etc. The diagnosis of aHUS is a diagnosis of exclusion that is established on the basis of specifi c clinical picture after exclusion of other forms of TMA, both primary and secondary. To exclude thrombotic thrombocytopenic purpura (TTP), all patients with TMA need to determine ADAMTS13 activity: its reducing to 10 or less is a diagnostic marker of TTP. In patients with aHUS and other TMA, ADAMTS13 activity may be reduced, but always exceeds 10. The innovative pathogenetic approach to aHUS treatment over the last decade became the application of eculizumab that is a drug from complementinhibitory antibodies group. Eculizumab is a fi rstline treatment for children with proven aHUS diagnosis, with familial disease, with extrarenal manifestations. Progress in diagnostic methods and new treatment approaches allows us to quickly suspect and stop the manifestations of aHUS, achieve stable remission and improve the prognosis.
Purpose.To assess the state of blood flow in retrobulbar vessels using the method of color Doppler imaging in thrombotic microangiopathy (TMA) associated with atypical hemolytic uremic syndrome (aHUS), malignant hypertension (MH) and catastrophic antiphospholipid syndrome (CAPS).Methods. The study involved 16 patients aged from 18 to 43 years with TMA associated with aHUS (13 patients), MH (2 patients) and CAPS (1 patient). All patients underwent a study of the state of blood flow in the vessels of the retrobulbar space by color Doppler imaging using a multifunctional ultrasonic diagnostic device Voluson 730 Pro and Voluson E8. The spectrum of blood flow in the ophthalmic artery (OA), central retinal artery (CRA), central retinal vein (CRV), in the medial and lateral short posterior ciliary arteries (SPCA) was recorded and the following parameters were determined: maximum systolic velocity (Vsyst), final diastolic velocity (Vdiast), peripheral resistance index (RI), pulsation index (PI).Results. The analysis of the Doppler blood flow spectrum in all patients with TMA syndrome revealed a decrease in Vsyst in the vessels of the retrobulbar space, more pronounced in the CRA, with an increase in the venous component of the Doppler spectrum. In patients with TMA associated with aHUS and MH Vdiast in the studied vessels were in normal limits or increased, RI and PI were reduced. In aHUS a statistically significant correlation was found between Vdiast in OA and the level of haptoglobin in blood serum, which is a classic marker of intravascular hemolysis.Conclusion. Color Doppler imaging of retrobulbar vessels is an important method for the diagnosis of ocular hemodynamics disorders in the syndrome of TMA. All patients with TMA syndrome are characterized with a decrease in the systolic component of the Doppler spectrum of blood flow in the vessels of the retrobulbar space, especially in the CRA, with an increase in the venous component. With aHUS and MH diastolic blood flow in the retrobulbar vessels corresponds to the norm or increases, RI and PI decrease. In TMA associated with aHUS, the final diastolic velocity of blood flow in OA depends on the level of microvascular hemolysis.
Hemolytic uremic syndrome (HUS) is a rare, but menacing condition registered mainly in children. The paper gives a detailed description and analysis of a clinical case of HUS with a favorable outcome in an adult woman who developed the syndrome in the presence of bloody diarrhea. It considers an update on the etiology, pathogenesis, and clinical features of HUS associated with diarrheal syndrome and discusses differential diagnostic features, diagnostic problems, and characteristics of management tactics for patients.
Pregnancy in patients with an advanced stage of chronic kidney disease (CKD) remains a rather rare situation to date. This observation demonstrates our own experience of successfully management of pregnancy in a patient with chronic kidney disease stage 4. A special feature of this observation is an unclear diagnosis that led to CKD. Based on a combination of advanced CKD in a young patient with no kidney history, no changes in urine tests, increased blood pressure, hyperuricemia, and small cysts of both kidneys, a diagnosis of autosomal dominant tubulo-interstitial kidney disease was suggested, despite the lack of family history of renal disease. Since the kidney disease was first identified during pregnancy, the main areas of care were the correction of complications (anemia, calcium-phosphorus disorders), caused by the advanced stage of CKD and the prevention of pre-eclampsia as one of the most frequent complications of pregnancy in this cohort of patients. In order to timely diagnose preeclampsia, the patient was regularly monitored for angiogenesis markers. Conducting pregnancy was carried out by an interdisciplinary team of specialists (nephrologists, obstetrician-gynecologists). Pregnancy ended with the birth of healthy baby. After childbirth renal failure progressed.
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