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Published: 2023-01-10
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DOI: https://doi.org/10.52852/tcncyh.v160i12V1.1199
Issue
Vol. 160 No. 12V1 (2022)
Section
Các bài báo
How to Cite
Lan, Đặng T. N. ., Ngọc, N. D., Quang, L. H. ., Tú, L. T. ., & Vân, Đặng T. H. . (2023). 21. Clinical characteristics and investigations of children with DiGeorge syndrome. Journal of Medical Research, 160(12V1), 156-165. https://doi.org/10.52852/tcncyh.v160i12V1.1199

21. Clinical characteristics and investigations of children with DiGeorge syndrome

Dang Thi Ngoc Lan, Ngo Diem Ngoc, Le Hong Quang, Le Trong Tu, Dang Thi Hai Van

Main Article Content

Abstract

DiGeorge syndrome (DGS), also known as 22q11.2 deletion syndrome, is a common genetic disorder, with diverse clinical manifestations with the classic triads of congenital heart disease, hypocalcemia due to hypoparathyroidism and immunodeficiency due to thymic abnormalities. A retrospective descriptive study of 144 patients diagnosed with Digeorge syndrome by FISH at Vietnam National Children's Hospital from January 2016 to July 2022 showed a median age of diagnosis was 3 months (0 - 14 years old). Male/Female = 1/1. Main Congenital anomalies detected were congenital heart diseases (95.8%), facial abnormalities (31.3%), congenital anomalies of the nervous system (27.7%) and genitourinary abnormalities (18.3%). Other common clinical manifestations included infections (77.1%), seizures (23.6%), growth retardation (50.7%) and developmental disorders (21.5%). The rate of hypocalcaemia was 50%. Hypoparathyroidism occured in 18/33 patients and was a common cause of hypocalcemia. Hematologic disorders included anemia, lymphopenia, and thrombocytopenia. Immunodeficiency was seen in 86.5% of patients.

Article Details

Keywords

DiGeorge syndrome (DGS), congenital heart disease, hypoparathyroidism, hypocalcaemia, immunodeficiency, 22q11.2 deletion

References

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