Difficulties in diagnosing atypical hemolytic uremic syndrome

The paper presents the case of clinical observation of a patient with atypical hemolytic-uremic syndrome (aHUS). aHUS is a disease characterized by an unfavorable prognosis (severe or catastrophic course with rapid development of terminal renal or multi-organ failure). The aim of the study is to eva...

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Main Authors: N. V. Fomina, L. D. Chesnokova, O. A. Konderova, S. A. Smakotina, E. V. Utkina, V. Yu. Isaev
Format: Article
Language:Russian
Published: Russian Academy of Sciences, Siberian Branch Publishing House 2020-01-01
Series:Сибирский научный медицинский журнал
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Online Access:https://sibmed.elpub.ru/jour/article/view/317
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author N. V. Fomina
L. D. Chesnokova
O. A. Konderova
S. A. Smakotina
E. V. Utkina
V. Yu. Isaev
author_facet N. V. Fomina
L. D. Chesnokova
O. A. Konderova
S. A. Smakotina
E. V. Utkina
V. Yu. Isaev
author_sort N. V. Fomina
collection DOAJ
description The paper presents the case of clinical observation of a patient with atypical hemolytic-uremic syndrome (aHUS). aHUS is a disease characterized by an unfavorable prognosis (severe or catastrophic course with rapid development of terminal renal or multi-organ failure). The aim of the study is to evaluate the approaches to differential diagnosis of aHUS in clinical practice.Material and methods. The study was conducted on the basis of the Nephrology Department of Kemerovo Regional Clinical Hospital n.a. S.V Belyaev. The clinical observation of patient D., aged 26 years old, is discussed.Results and discussion. Diagnosing aHUS requires: 1) diagnosing thrombotic microangiopathy (TMA: thrombocytopenia or decrease in platelet count by more than 25 % of original, visceral damage (kidneys, CNS, gastrointestinal tract, heart, lungs)); 2) ruling out HUS associated with Shiga toxin-producing Escherichia coli (STEC-HUS; negative for Shiga-toxin in blood and stool), thrombotic thrombocytopenic purpura (TTP), systemic connective tissue disease, catastrophic antiphospholipid syndrome, HIV infection; 3) assessing the activity of ADAMTS13 (decrease confirms the aHUS diagnosis); 4) proving normal content of complement components C3 and C4 as an additional argument in favor of aHUS diagnosis. At the first stage, the patient was diagnosed with TMA (platelet content 37 x 109/l, hemoglobin content 59 g/l), LDH up to 824 E/l), liver damage (AST, ALT and LDH activity 55, 60 and 824 U/l, respectively), kidney damage (acute renal damage), lungs, heart, and brain damage. At the second stage the following diagnoses were ruled out: STEC-HUS (Shiga toxin in blood and stool was not detected), TTP (ADAMTS13 activity level was 66 %, whereas reference values are 93-113 %, in TTP - below 5-10 %); systemic connective tissue diseases catastrophic antiphospholipid syndrome, HIV infection sepsis. Normal values of C3 (0.9 g/l) and C4 (0.23 g/l) complement components did not rule out the diagnosis of aHUS.
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institution Kabale University
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record_format Article
series Сибирский научный медицинский журнал
spelling doaj-art-13b03505f72648a2811ca0e1a2d93b3f2025-08-20T03:50:43ZrusRussian Academy of Sciences, Siberian Branch Publishing HouseСибирский научный медицинский журнал2410-25122410-25202020-01-01396929710.15372/SSMJ20190612225Difficulties in diagnosing atypical hemolytic uremic syndromeN. V. Fomina0L. D. Chesnokova1O. A. Konderova2S. A. Smakotina3E. V. Utkina4V. Yu. Isaev5Kemerovo Regional Clinical Hospital n.a, S.V Belyaev; Kemerovo State Medical University of Minzdrav of RussiaKemerovo Regional Clinical Hospital n.a, S.V Belyaev; Kemerovo State Medical University of Minzdrav of RussiaKemerovo Regional Clinical Hospital n.a, S.V BelyaevKemerovo Regional Clinical Hospital n.a, S.V Belyaev; Kemerovo State Medical University of Minzdrav of RussiaKemerovo State Medical University of Minzdrav of RussiaKemerovo State Medical University of Minzdrav of RussiaThe paper presents the case of clinical observation of a patient with atypical hemolytic-uremic syndrome (aHUS). aHUS is a disease characterized by an unfavorable prognosis (severe or catastrophic course with rapid development of terminal renal or multi-organ failure). The aim of the study is to evaluate the approaches to differential diagnosis of aHUS in clinical practice.Material and methods. The study was conducted on the basis of the Nephrology Department of Kemerovo Regional Clinical Hospital n.a. S.V Belyaev. The clinical observation of patient D., aged 26 years old, is discussed.Results and discussion. Diagnosing aHUS requires: 1) diagnosing thrombotic microangiopathy (TMA: thrombocytopenia or decrease in platelet count by more than 25 % of original, visceral damage (kidneys, CNS, gastrointestinal tract, heart, lungs)); 2) ruling out HUS associated with Shiga toxin-producing Escherichia coli (STEC-HUS; negative for Shiga-toxin in blood and stool), thrombotic thrombocytopenic purpura (TTP), systemic connective tissue disease, catastrophic antiphospholipid syndrome, HIV infection; 3) assessing the activity of ADAMTS13 (decrease confirms the aHUS diagnosis); 4) proving normal content of complement components C3 and C4 as an additional argument in favor of aHUS diagnosis. At the first stage, the patient was diagnosed with TMA (platelet content 37 x 109/l, hemoglobin content 59 g/l), LDH up to 824 E/l), liver damage (AST, ALT and LDH activity 55, 60 and 824 U/l, respectively), kidney damage (acute renal damage), lungs, heart, and brain damage. At the second stage the following diagnoses were ruled out: STEC-HUS (Shiga toxin in blood and stool was not detected), TTP (ADAMTS13 activity level was 66 %, whereas reference values are 93-113 %, in TTP - below 5-10 %); systemic connective tissue diseases catastrophic antiphospholipid syndrome, HIV infection sepsis. Normal values of C3 (0.9 g/l) and C4 (0.23 g/l) complement components did not rule out the diagnosis of aHUS.https://sibmed.elpub.ru/jour/article/view/317thrombotic microangiopathyatypical hemolytic-uremic syndromecompliment systemalternative way of activation of the compliment systemeculizumab
spellingShingle N. V. Fomina
L. D. Chesnokova
O. A. Konderova
S. A. Smakotina
E. V. Utkina
V. Yu. Isaev
Difficulties in diagnosing atypical hemolytic uremic syndrome
Сибирский научный медицинский журнал
thrombotic microangiopathy
atypical hemolytic-uremic syndrome
compliment system
alternative way of activation of the compliment system
eculizumab
title Difficulties in diagnosing atypical hemolytic uremic syndrome
title_full Difficulties in diagnosing atypical hemolytic uremic syndrome
title_fullStr Difficulties in diagnosing atypical hemolytic uremic syndrome
title_full_unstemmed Difficulties in diagnosing atypical hemolytic uremic syndrome
title_short Difficulties in diagnosing atypical hemolytic uremic syndrome
title_sort difficulties in diagnosing atypical hemolytic uremic syndrome
topic thrombotic microangiopathy
atypical hemolytic-uremic syndrome
compliment system
alternative way of activation of the compliment system
eculizumab
url https://sibmed.elpub.ru/jour/article/view/317
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AT sasmakotina difficultiesindiagnosingatypicalhemolyticuremicsyndrome
AT evutkina difficultiesindiagnosingatypicalhemolyticuremicsyndrome
AT vyuisaev difficultiesindiagnosingatypicalhemolyticuremicsyndrome