DiGeorge Syndrome Flashcards
(7 cards)
1
Q
How is DiGeorge Syndrome caused?
A
Microdeletion in chromosome 22q11
2
Q
What does the deletion of the chromosome cause?
A
Failure of development of 3rd and 4th pharyngeal pouches
3
Q
What does DiGeorge Syndrome lead to?
A
Atrophy of Parathyroid glands, Thymus and lymph nodes
4
Q
What is reduced in the active immune system due to DiGeorge Syndrome
A
CD4+ and CD8+ T cells
5
Q
What is the treatment to DiGeorge Syndrome?
A
Thymic Transplant
6
Q
What are the symptoms of DiGeorge Syndrome?
A
Tetany and infection (Viral/fungal)
7
Q
How can DiGeorge Syndrome be detected?
A
Hypocalemia, Absent Thymus shadow
