Atypical hemolytic-uremic syndrome, manifesting without thrombocytopenia (clinical case)

Abstract

Background. Atypical hemolytic uremic syndrome is an ultra-rare (orphan) disease from the group of thrombotic microangiopathies of progressive course, which is caused by uncontrolled activation of the alternative complement pathway of hereditary or acquired nature, leading to generalized thrombus formation in the vessels of the microcirculatory bed. Atypical hemolytic uremic syndrome is an orphan disease with an incidence of approximately 2–7 cases per 1 million. Materials and methods. The study provides an analysis of a clinical case of atypical hemolytic-uremic syndrome. Information from the medical record of an inpatient with the results of instrumental and laboratory diagnostic methods was used. Results. The difficulty of the diagnostic search for this case was the absence of the classic triad of the disease, namely thrombocytopenia. Conclusions. This indicates the need for increased attention from practitioners and requires an individual approach to the management of each patient in order to minimize the establishment of an erroneous diagnosis.

Keywords

• atypical hemolytic-uremic syndrome
• thrombotic microangiopathy
• acute kidney injury