• Down syndrome in the practice of haematologist

Down syndrome in the practice of haematologist

SOVREMENNAYA PEDIATRIYA.2017.6(86):130-146; doi 10.15574/SP.2017.86.130

Dorosh О. І., Troyanovska O. O., Оcheretna О. M., Kitsera N. І., Іvanenko A. L., Seredych L. P., Myh A. M., Tsymbalyuk-Voloshyn I. P., Bezkorovaina G. M., Melnychuk L. W., Tysyachna L. M., Mikula М. І., Bidyuk W. M., Stepanyuk A. I., Kozlova O. I., Dubey L. Ya., Polishchuk R. S., Skoropad L. L., Vorobel O. I., Savchak І. Ya.
Lviv Regional Council Public Institution «Western Ukrainian Specialized Children's Medical Centre», Ukraine
Danylo Halytskyy Lviv National Medical University, Ukraine
Mykolaiv Regional Children's Clinical Hospital, Ukraine
Ivano-Frankivsk Regional Children's Clinical Hospital, Ukraine
Lviv Regional Clinical Hospital, Ukraine
SI «Institute of Hereditary Pathology of the NAMS of Ukraine», Lviv

The researchers analysed clinical symptoms, laboratory data and special features of haematopoiesis in 26 children with Down syndrome (DS). High incidence of congenital malformations are common for DS, thus 69.2% of them had congenital heart diseases, with predominance of common atrioventricular canal and ventricular septal defect. In the group of children with 21-Trisomy several haematological disorders were found, such as: iron deficiency anaemia (30.8%), transient abnormal myelopoiesis (19.2%), and immune thrombocytopenic purpura (15.4%). In 3 out of 5 children with transient abnormal myelopoiesis, the clonal diseases were revealed: myelodisplastic syndrome, idiopatic myelofibrosis and ganglioneuroblastoma. It can be suggested that transient abnormal myelopoiesis is a stand-alone nosologic unit, transient myeloproliferative disorder, which regresses spontaneously in 2 out of 5 patients, but can proceed to the severe clonal diseases. Children with DS are predisposing to the malignant haematopoietic diseases: an acute myeloid leukaemia is recognized in 15.4% and an acute lymphoblastic leukaemia in 7.7% of cases. Non-Hodgkin Lymphoma and solid tumours are rare among children with 21-Trisomy (3.8%). It was found that for children with DS complicated with acute myeloid leukaemia, the program chemotherapy is highly effective. In the case of B-cell lymphoprolifer-ative diseases the treatment with methotrexate, even in low or moderate doses (0,5g/m2 or 2g/m2), causes severe toxic damage of skin, mucosa or visceral organs. The general survival of children with DS is 0.68.
Key words: children, Down syndrome, transient abnormal myelopoiesis, anaemia, acute lymphoblastic leukaemia, acute myeloid leukaemia, congenital defect.

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