DIFFICULTIES IN DIAGNOSING ATYPICAL HEMOLYTIC UREMIC SYNDROME
NatalyaViktorovna FOMINA1,2, Lyudmila Daniilovna CHESNOKOVA1,2, Olga Alexandrovna KONDEROVA1, Svetlana Anatolevna SMAKOTINA1,2, Ekaterina Vladimirovna UTKINA2, Vladislav Yuryevich ISAEV2
1Kemerovo Regional Clinical Hospital n.a, S.V. Belyaev
2Kemerovo State Medical University of Minzdrav of Russia
Keywords: тромботическая микроангиопатия, атипичный гемолитико-уремический синдром, система комплемента, ADAMTS13, экулизумаб, thrombotic microangiopathy, atypical hemolytic-uremic syndrome, compliment system, alternative way of activation of the compliment system, eculizumab
Abstract
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 × 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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