Article Sidebar

PDF (Tiếng Việt)
Published: 2023-01-10
Abstract Views: 275
Views PDF (Tiếng Việt): 373
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

1. Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden. Arch Dis Child. 2004;89(2):148-151. doi: 10.1136/adc.2003.026880.
2. McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome Summary Genetic Counseling GeneReview Scope Diagnosis Suggestive Findings. 2020. https://www.ncbi.nlm.nih.gov/books/NBK1523/.
3. Campbell IM, Sheppard SE, Crowley TB, et al. What’s New with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia. Am J Med Genet A. 2018;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.
4. Digilio M, Marino B, Capolino R, Dallapiccola B. Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images Paediatr Cardiol. 2005;7(2):23-34.
5. Lê Thị Liễu, Đinh Thị Hồng Nhung, Ngô Diễm Ngọc. Kỹ thuật lai huỳnh quang tại chỗ (FISH) trong chẩn đoán hội chứng DiGeorge. Tạp chí Nhi khoa. 2016;9(3):71-75.
6. Lê Thanh Hải. Hướng Dẫn Chẩn Đoán và Điều Trị Bệnh Trẻ Em (Cập Nhật 2018). Nhà xuất bản Y học; 2018. https://benhviennhitrunguong.gov.vn/huong-dan-chan-doan-va-dieu-tri-benh-tre-em-2.html.
7. Park IS, Ko JK, Kim YH, et al. Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: A Korean multicenter study. International Journal of Cardiology. 2007;114(2):230-235. doi: 10.1016/j.ijcard.2005.12.029.
8. Repetto GM, Guzmán ML, Delgado I, et al. Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: A retrospective cohort study. BMJ Open. 2014;4(11):e005041. doi: 10.1136/bmjopen-2014-005041.
9. Nissan E, Katz U, Levy-Shraga Y, et al. Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome. J Pediatr. 2021;238:215-220.e5. doi: 10.1016/j.jpeds.2021.07.020.
10. Devriendt K, Swillen A, Fryns JP, Proesmans W, Gewillig M. Renal and urological tract malformations caused by a 22q11 deletion. J Med Genet. 1996;33(4):349.
11. Bohm LA, Zhou TC, Mingo TJ, et al. Neuroradiographic findings in 22q11.2 deletion syndrome. American Journal of Medical Genetics Part A. 2017;173(8):2158-2165. doi: 10.1002/ajmg.a.38304.
12. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet. 1997;34(10):798-804.
13. Bộ Y tế. Bộ Y tế công bố kết quả Tổng điểu tra Dinh dưỡng năm 2019-2020. Tin nổi bật - Cổng thông tin Bộ Y tế. Accessed September 13, 2022. https://moh.gov.vn/tin-noi-bat/-/asset_publisher/3Yst7YhbkA5j/content/bo-y-te-cong-bo-ket-qua-tong-ieu-tra-dinh-duong-nam-2019-2020.
14. Lawrence S, McDonald-McGinn DM, Zackai E. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. J Pediatr. 2003;143(2):277-278. doi: 10.1067/S0022-3476(03)00248-8.
15. Kato T, Kosaka K, Kimura M, et al. Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta. Genet Med. 2003;5(2):113-119. doi: 10.1097/01.GIM.0000056828.03164.30.
16. Naqvi N, Davidson SJ, Wong D, et al. Predicting 22q11.2 deletion syndrome: a novel method using the routine full blood count. Int J Cardiol. 2011;150(1):50-53. doi: 10.1016/j.ijcard.2010.02.027.