DiGeorge syndorme

DiGeorge syndrome (abbreviated DGS; also referred to as: DiGeorge anomaly, hypoplasia of the thymus and parathyroid glands, velocardiofacial syndrome; 22q11.2 deletion syndrome, DiGeorge anomaly, velo‑cardio‑facial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, thymic hypoplasia) is caused by a deletion of a gene on the long arm of chromosome 22. It occurs in the population with a frequency of approximately 1 in 4,000. It was first described in 1968 by pediatric endocrinologist Angelo DiGeorge, after whom the syndrome is named.

Symptoms and Diagnosis

DiGeorge syndrome affects multiple organ systems and is associated with their impaired development. It includes congenital heart defects, learning difficulties, congenital facial anomalies and cleft palate, congenital renal abnormalities, immune system disorders, and complications resulting from low blood calcium levels. Children with DGS have immune deficiency because the thymus is insufficiently developed or completely absent (thymic hypoplasia to aplasia), leading to inadequate development of T lymphocytes, which play a crucial role—together with other immune cells—in the body’s immune defense.

In recent years, a possible association between DiGeorge syndrome and schizophrenia has also been studied, with evidence suggesting that patients with DGS have a higher risk of developing schizophrenia.

Diagnosis is based on immunological testing, and the chromosomal deletion can be identified using FISH (fluorescence in situ hybridization).

Treatment

Currently, there is no causal treatment for DiGeorge syndrome. Only the symptoms of the syndrome can be treated. In severe cases, bone marrow transplantation may be performed. 

• sú veľmi rôznorodé, záleží na tom, ktorý orgánový systém je postihnutý
• vrodené srdcové chyby - najmä Fallotova tetralógia (defekt komorového septa, dextropozícia aorty, ktorá nasadá nad defektom septa, stenóza pľúcnice, hypertrofia pravej komory)
• cyanóza - modrasté sfarbenie kože, spôsobené nedostatočným okysličením krvi, mramorovanie kože<br/>rázštep podnebia
• charakteristické črty tváre - nevyvinutá brada, nízko postavené uši, naširoko postavené oči
• poruchy učenia, poruchy správania, zvýšená predispozícia na vznik schizofrénie
• hypokalciémia (znížená hladina vápnika v krvnom sére) - spôsobený nedostatočnou funkciou štítnej žľazy, čo spôsobuje kŕče
• vrodené chyby obličiek
• strata sluchu
• malý vzrast spôsobený nedostatkom rastového hormónu
• oslabená imunita, časté infekcie
• porucha príjmu potravy, neprospievanie, poruchy trávenia
• ťažkosti s dýchaním rôznorodého charakteru
• hypotonický syndróm
• oneskorenie psychomotorického vývoja
• oneskorený nástup reči