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Tyrosinemia is a rare metabolic disease resulting from a metabolic disorder of amino acids, which can occur under the «masks» of various diseases, debut as a hemorrhagic syndrome in children of all age groups, hepatolienal syndrome, hypoglycemia, rickets-like disease, peripheral neuropathy. Clinical case. In our publication, we report on a girl at the age of 1 year 7 months who had recurrent nosebleeds, which led to a referral to a hematologist. Examination revealed hepatomegaly with impaired liver function (hypoproteinemia, long-term resistant hypoglycemia, coagulopathy) with the development of chronic liver failure, ascites and splenomegaly with signs of hypersplenism, ascites, and nephromegaly. Differential diagnostics was carried out between oncohematological process, myelodysplastic syndrome (MDS) and metabolic disease. Type 1 tyrosinemia (hereditary infantile tyrosinemia (HT-1)) was verified by a combination of clinical and biochemical, molecular genetic studies. Verification of the disease came from the spectrometry of amino acids, acylcarnitines, succinal acetates and molecular genetic studies. Molecular genetic studies in the INVITAE laboratory, USA revealed two pathogenic variants identified in the FAH gene c.1069G>T (p.Glu357*) and c.554-1G>T, which are associated with autosomal recessive tyrosinemia. The emphasis in the publication is on the differential diagnosis, the effectiveness of the treatment of this orphan disease. The method of pathogenetic therapy of HT-1 is described in detail, both with the use of the drug nitisinone (orphadin) registered in Ukraine, a special diet with a low content of phenylalanine / tyrosine, which have a pronounced positive clinical effect and prevent the formation of irreversible disabling disorders. We emphasize the need for early diagnosis of HT-1 and support the Ministry of Health of Ukraine in the initiative of routine neonatal screening for orphan diseases, which include HT-1, since timely treatment improves the quality of life in these patients. The research was carried out in accordance with the principles of the Helsinki declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors. Key words: hepatosplenomegaly, nephromegaly, tyrosinemia type 1, children.

Hemophagocytic lymphohistiocytosis (HLH) is polygenetic disease caused by mutations in genes associated with granule-dependent lymphocyte-mediated cytotoxicity (PRF1, UNC13D, STX11, STXBP2, LYST, AP3B1, AP3D1 RAB27A, XIAP, SH2D1A).

Our cohort of patients demonstrated a repeated mutation in the UNC13D genec.2346_2349delCTCC(p.R782fs), which may be associated with the “founder effect” in Slavic countries. Atypical manifestation causes difficulties in rapid diagnosis, fast sequencing of all PID genes are necessary for establishing correct diagnosis and start appropriate treatment.

The presence of coagulopathy as part of the systemic inflammatory response syndrome is a characteristic feature of severe coronavirus disease 2019 (COVID-19). Hematological changes (increased DD-dimer, prolonged activated partial thromboplastin clotting time [APTT] and prothrombin time [PT], high fibrinogen levels) have been observed in hospitalized patients with COVID-19, which characterize the risk of thrombotic events. Against the background of COVID-19 there is endothelial dysfunction, hypoxia and pulmonary congestion, mediated by thrombosis and microvascular occlusion. Up to 71.4% of patients who died from COVID-19 had disseminated intravascular coagulation syndrome, compared with only 0.6% of survivors. The main manifestation of COVID-19-associated coagulopathy is a significant increase in DD without a decrease in platelet count or prolongation of APTT and PT, indicating increased thrombin formation and the development of local fibrinolysis. An increase in DD levels of more than 3-4 times was associated with higher in-hospital mortality. Therefore, COVID-19 requires assessment of the severity of the disease for further tactics of thromboprophylaxis. The need for 1 continued thromboprophylaxis, or therapeutic anticoagulation, in patients after inpatient treatment for two weeks using imaging techniques to assess of thrombosis assessment.

As more data is collected, hematologists will be able to gain more insight into the impact of coronavirus disease 2019 (COVID-19) on pediatric patients with hematological malignancies. Material and methods: We analysed 21 cases of COVID-19 in pediatric patients with onco-hematological diseases treated in the Western Ukrainian Pediatric Medical Center from March 2020 through May 2021. The majority of patients (71.4%) were diagnosed with acute lymphoblastic leukemia. All patients from the analyzed cohort had an asymptomatic, mild or moderate course of coronavirus-19 infection. The most common symptoms of COVID-19 were fever, cough, gastrointestinal symptoms, and dermatitis. Severe severe acute respiratory syndrome coronavirus 2 increased the risk of liver toxicity and venous thrombosis. Results and conclusion: Our analysis showed that pediatric patients with hematological malignancies need the same treatment approach for COVID-19 as for other infective complications.

On Feb 24, 2022, Russian military forces began a coordinated invasion of Ukraine. Russian assaults resulted in widespread damage to densely populated residential areas and critical civilian infrastructure, including power stations, transportation hubs, schools, and health care facilities. As a result, more than 10 million refugees have fled Ukraine, approximately 50% fleeing to Poland. Attacks on Ukraine's health system and pharmaceutical supply chains created challenges for the provision of critical services for people with injuries and chronic illnesses. Among the most vulnerable patients are children with cancer and blood disorders, who require timely access to diagnostic, therapeutic, and supportive care for survival. The war has resulted in acute interruption of medical care, threatening the lives of thousands of Ukrainian children.