Vol 14, No 3 (2015)

The main manifestations of haemophilia are bleedings in the major joints. Haemarthrosis triggers the pathogenetic cascade, which can lead to development of haemophilic arthropathy. The blood has a negative effect on the status of the articular cartilage and synovial membrane. Numerous studies demonstrate the key role of prophylactic treatment in prevention of haemophilic arthropathy. The dose of coagulation factor can be corrected with consideration for its pharmacokinetic characteristics, so that the activity of the deficient factor is not reduced below 1% for a long time, in order to prevent spontaneous bleedings and development of arthropathy.

Children with constitutional trisomy 21 (cT21, Down Syndrome, DS) are at a higher risk for both myeloid and B-lymphoid leukaemias. The myeloid leukaemias are often preceded by a transient neonatal pre-leukaemic syndrome, Transient Abnormal Myelopoiesis (TAM). TAM is caused by cooperation between cT21 and acquired somatic N-terminal truncating mutations in the key haematopoietic transcription factor GATA1 . These mutations, which are not leukaemogenic in the absence of cT21, are found in almost one-third of neonates with DS. Analysis of primary human fetal liver haematopoietic cells and of human embryonic stem cells demonstrates that cT21 itself substantially alters human fetal haematopoietic development. Consequently, many haematopoietic developmental defects are observed in neonates with DS even in the absence of TAM. Although studies in mouse models have suggested a pathogenic role of deregulated expression of several chromosome 21-encoded genes, their role in human leukaemogenesis remains unclear. As cT21 exists in all embryonic cells, the molecular basis of cT21-associated leukaemias probably reflects a complex interaction between deregulated gene expression in haematopoietic cells and the fetal haematopoietic microenvironment in DS.

Progress in modern research led to improvement of event-free survival of children with acute lymphoblastic leukemia (ALL), which now reached 80% and higher. Lethal cases today are most often caused by side effects of therapy. Hence, further improvement of the results of ALL treatment in children implies effective prevention and therapy of complications and reduction of the toxicities of therapies. One of hazardous complications of ALL therapy, deteriorating the results of treatment and, hence, the patients’ survival, is thrombosis - life-time blood clotting in the vascular lumen or heart cavities. This paper presents published data on the incidence, pathogenesis, risk factors, diagnosis, and potentialities of modern therapies for this grave complication and its prevention.

The incidence of acute lymphoblastic leukemia (ALL) in children in Azerbaijan Republic is analyzed for the first time for the period of 1998-2008. The incidence of ALL in children was increasing over the analyzed period at an annual increment of3.39 ± 0.9%. Comparative analysis of epidemiological data in Azerbaijan Republic and Republic of Belarus has shown a probable neglect of ALL cases in girls and in infants aged under 1 year in Azerbaijan Republic. The need in creation of the population cancer register of children in Azerbaijan Republic is demonstrated.

Intravenous immunoglobulin G (IVIG) is the main modality of pathogenetic therapy for primary immunodeficiencies (PIDs). However, commercial IVIG preparations are not identical, and reliable clinical data are essential for the choice. We studied the efficacy and safety of 5% IVIG I.G. Vena® (“Kedrion C.p.A”, Italy) in the treatment of patients with PIDs aged 8 months to 13 years. The therapy maintained good trough serum IgG levels. The mean trough serum IgG level on previous therapy was7.3 ± 0.46 g/l, after 1 month of therapy with I.G. Vena - 6.8 ± 0.41 g/l, and after 2 months of therapy with I.G. Vena - 7.4 ± 0.46 g/l (p = 0.7 and 0.5 vs. the trough serum IgG level on previous therapy, respectively), which was associated with the absence of significant infectious episodes in patients with PIDs over 3 months of the study. No adverse reactions to the drug were recorded during the study. Hence, the results demonstrated the efficacy and safety of I.G. Vena in the treatment of children with PIDs.

The debut of acute intermittent porphyria in a prepubertal patient is described. This clinical case report illustrates the difficulties in the diagnosis of the disease with its great variety of nonspecific symptoms. The authors emphasize the need to include acute porphyrias in the range of differential diagnostic search in patients with abdominal pain which cannot be attributed to more common causes, particularly in cases when intense abdominal pain is associated with psychoneurological symptoms and changed color of the urine.