The atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease with a genetically determined dysregulation of the alternative complement pathway, which leads to the development of thrombotic microangiopathy. The application of the targeted therapy in Russia has changed the natural course of the disease since 2012: from death of a patient to achieving a long-term remission of the aHUS. The authors report the clinical case of the aHUS associated with a heterozygous mutation in CFH gene c.2850G>T (p.Gln950His) in a 2 years and 2 months old pediatric patient. The difficulty in diagnosing of the aHUS was the lack of specific laboratory criteria confirming the diagnosis as well as the presence of a diarrheal prodrome at the onset. The diagnosis has been made on the basis of the development of microangiopathic hemolytic anemia, thrombocytopenia, acute kidney injury and the exclusion of other forms of thrombotic microangiopathy. The treatment of the patient in accordance with the clinical guidelines for the management of patients with this nosology proved to be effective and led to a stable remission of the aHUS, which also confirmed the correctness of the diagnosis. The described clinical case observation is of interest to pediatrician physicians and nephrologists. The important factors in the management of such patients are the timely diagnosis of the aHUS along with the initiation of complement-inhibiting Eculizumab therapy.
Background and Aims
Shiga-toxin associated hemolytic-uremic syndrome (STEC-HUS) is a thrombotic microangiopathy (TMA) followed by intestinal infection caused by shiga-toxin-producing E. coli. Endothelium damage of the microvasculature leads to the formation of platelet-fibrin thrombi and occlusion of small vessels. The aim of our study was a retrospective analysis of thrombotic complications in children with STEC-HUS.
Method
We retrospectively analyzed the case histories of patients in the dialysis department of St. Vladimir's Children's City Clinical Hospital from 2009 to 2019. The study included patients with STEC-HUS with the development of thrombotic complications.
Results
Among 410 patients with STEC-HUS, 16 patients with thrombotic complications were identified. Equally boys and girls, mean age 3.5 ± 2.4 g. Respiratory support was required in 6 cases. The duration of anuria was 9.9 +/- 6.2 days, in 2 cases only oliguria was noted. In all patients blood transfusion, fresh frozen plasma were needed, antibiotics were used. In all cases, continuous venovenous hemodiafiltration (CVVHDF) was performed with 2-way catheters, usually in the femoral vein. Thrombotic complications in all cases were associated with therapy. In 11 children, thrombosis was localized in the femoral, iliac veins and vena cava inferior. Clinical manifestations in the form of limb edema, cyanosis were noted in 4 patients, in other cases the diagnosis was made by ultrasound. 3 patients with thrombosis of the branches of the central retinal vein, vena cava superior, mesenteric thrombosis. 1 patient was diagnosed with dissecting femoral vein aneurysm. In 3 cases, CVVGDF had to be stopped due to catheter thrombosis. Before the current thrombosis, these children were not prescribed anicoagulants. Coagulation tests indices indicated hypercoagulability and were characterized by higher thrombin time, increased levels of D-dimer, and increased fibrinolysis time.
Conclusion
Large vessel thrombosis in children with STEC-HUS is a rare complication. The provoking factor for the implementation of thrombotic events in all cases was femoral vein catheterization. When managing patients with STEC-HUS monitoring of coagulation status is needed for the purpose of timely administration of anticoagulants.
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