5. Combined treatment of digeorge syndrome

Authors

  • G.N. Ismailova A.N. Syzganov National scientific center of surgery, JSC, Almaty, Kazakhstan, А. Н. Сызғанов Атындағы Ұлттық ғылыми хирургия орталығы, Алматы, Қазақстан, Al Farabi, Kazakh National University, Almaty, Kazakhstan, Казахский национальный университет аль-Фараби, Алматы, Казахстан, Әл-ФарабиатындағыҚазақұлттықуниверситеті, Алматы, Қазақстан https://orcid.org/0000-0002-7461-4190
  • A.K. Khamidulla A.N. Syzganov National scientific center of surgery, JSC, Almaty, Kazakhstan, А. Н. Сызғанов Атындағы Ұлттық ғылыми хирургия орталығы, Алматы, Қазақстан https://orcid.org/0009-0005-9575-2778
  • I.A. Yakupova A.N. Syzganov National scientific center of surgery, JSC, Almaty, Kazakhstan, А. Н. Сызғанов Атындағы Ұлттық ғылыми хирургия орталығы, Алматы, Қазақстан https://orcid.org/0000-0003-4833-0239
  • I. Omarkyzy A.N. Syzganov National scientific center of surgery, JSC, Almaty, Kazakhstan, А. Н. Сызғанов Атындағы Ұлттық ғылыми хирургия орталығы, Алматы, Қазақстан https://orcid.org/0009-0008-5820-4117
  • A.D. Temirkhanov A.N. Syzganov National scientific center of surgery, JSC, Almaty, Kazakhstan, А. Н. Сызғанов Атындағы Ұлттық ғылыми хирургия орталығы, Алматы, Қазақстан https://orcid.org/0000-0003-4153-321X

DOI:

https://doi.org/10.35805/BSK2024I005

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Abstract

Background. DiGeorge syndrome is a rare congenital disease associated with a deletion of chromosome 22q11.2, which is characterized by the occurrence of various anomalies, such as hypo/aplasia of the thymus and parathyroid glands, which leads to T-cell immunodeficiency and hypoparathyroidism; this syndrome is also characterized by congenital heart disease (tetralogy of Fallot), anomalies in the development of craniofacial structures are observed, in the form of non-fusion of the hard palate and upper lip (cleft palate and cleft lip).

Results. This article will examine a clinical case of DiGeorge syndrome in a child, with the classic triad characteristic of this condition (immunodeficiency, hypoparathyroidism and congenital heart disease). The patient underwent the first stage of correction of a combined heart defect against the background of constant (monthly) immunocorrection. Due to the COVID-19 pandemic, our patient was unable to receive scheduled hospitalization for blood replacement and immunocorrective therapy in a timely manner. The key to increasing the survival rate of patients with DiGeorge syndrome is prenatal screening, timely correction of the anomaly and immunoreplacement therapy, which are actively used in foreign countries. Also, incomplete treatment of DiGeorge syndrome can subsequently lead to various other manifestations, such as autoimmune diseases, infectious diseases, etc.

Conclusion. The prognosis of DiGeorge syndrome is that this disease has various clinical manifestations, is combined with other variants of the anomaly that are incompatible with life and lead to delayed psychomotor development and have an unfavorable prognosis.

Keywords

DiGeorge syndrome, thymic hypo/aplasia, tetralogy of Fallot, thymus transplantation

References

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Published

2024-05-21

Issue

No. 1 (2024)

Section

Статьи