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Di Georgi's Syndrome: Causes, Symptoms, Diagnosis, Treatment
Last reviewed: 23.04.2024
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Syndrome Di Georgi is associated with hypo- or aplasia of the thymus and parathyroid glands, leading to T-cell immunodeficiency and hypoparathyroidism.
Dee Georgie's syndrome is the result of the deletion of the 22q11 locus in chromosome 22, the mutation of the 10p13 locus genes in the 10th chromosome, and the mutations of unknown genes that lead to the dysembryogenesis of the structures developing from the pharyngeal pockets at the 8th week of gestation. Most cases are sporadic; boys and girls are affected with the same frequency. The syndrome of Di Georgi may be partial, in which the function of T-lymphocytes is preserved, or complete, in which the function of T-lymphocytes is completely impaired.
The face of a sick child has the characteristic features: low-lying ears, medial clefts of the face, a small "cut off" lower jaw, hypertelorism, a truncated upper lip filter, congenital heart defects. Children have hypo- or aplasia of the thymus and parathyroid glands, leading to T-cell insufficiency and hypoparathyroidism. Recurrent infections begin immediately after birth, but the degree of immunodeficiency varies considerably, the function of T-lymphocytes can spontaneously improve. Hypocalcemic convulsions are observed within 24-48 hours after birth.
The prognosis often depends on the severity of heart defects. In the partial syndrome of Di Georgi, hypoparathyroidism is treated with the prescription of preparations of Ca and vitamin D; life expectancy is not violated. With the complete syndrome of Di Georgi without treatment, death occurs; treatment involves transplantation of thymus tissue culture.
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