Features of Diagnosing and Managing a Patient with DiGeorge Syndrome

The article presents a case of own clinical observation of DiGeorge syndrome (22q11.2 chromosome deletion syndrome) in a child. The features of the disease course with the dominance of clinical symptoms of congenital malformations of the heart, blood vessels and lungs are noted. This case demonstrat...

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Autores principales: O.S. Koreniuk (Autor), T.V. Yaroshevska (Autor), I.H. Samoilenko (Autor), T.V. Baralei (Autor)
Formato: Libro
Publicado: Zaslavsky O.Yu., 2016-04-01T00:00:00Z.
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100 1 0 |a O.S. Koreniuk  |e author 
700 1 0 |a T.V. Yaroshevska  |e author 
700 1 0 |a I.H. Samoilenko  |e author 
700 1 0 |a T.V. Baralei  |e author 
245 0 0 |a Features of Diagnosing and Managing a Patient with DiGeorge Syndrome 
260 |b Zaslavsky O.Yu.,   |c 2016-04-01T00:00:00Z. 
500 |a 2224-0551 
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500 |a 10.22141/2224-0551.3.71.2016.76343 
520 |a The article presents a case of own clinical observation of DiGeorge syndrome (22q11.2 chromosome deletion syndrome) in a child. The features of the disease course with the dominance of clinical symptoms of congenital malformations of the heart, blood vessels and lungs are noted. This case demonstrates the difficulty of diagnosing incomplete DiGeorge syndrome with moderate immunological disorders and transient hypocalcemia. Patient management should be focused not only on the surgical correction of congenital heart disease, but also on the prevention of recurrent infections and hypocalcemia, which prevents the complicated course of the disease and determines a favorable prognosis. 
546 |a EN 
546 |a UK 
690 |a DiGeorge syndrome 
690 |a congenital immunodeficiency 
690 |a children 
690 |a Pediatrics 
690 |a RJ1-570 
655 7 |a article  |2 local 
786 0 |n Zdorovʹe Rebenka, Vol 11, Iss 3.71, Pp 124-127 (2016) 
787 0 |n http://childshealth.zaslavsky.com.ua/article/view/76343 
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787 0 |n https://doaj.org/toc/2307-1168 
856 4 1 |u https://doaj.org/article/6f76d97cd3874661a63e4d90a4d4539c  |z Connect to this object online.