| Texto completo | |
| Autor(es): |
Fomin, Angela B. F.
[1]
;
Pastorino, Antonio Carlos
[1]
;
Kim, Chong Ae
[2]
;
Pereira, Alexandre C.
[3]
;
Carneiro-Sampaio, Magda
[1]
;
Abe Jacob, Cristina Miuki
[1]
Número total de Autores: 6
|
| Afiliação do(s) autor(es): | [1] Univ Sao Paulo, Fac Med, Hosp Clin, Allergy & Immunol Unit, Inst Crianca, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Hosp Clin, Genet Unit, Inst Crianca, Sao Paulo - Brazil
[3] Univ Sao Paulo, Fac Med, Hosp Clin, Mol Cardiol Lab, Inst Coracao, Sao Paulo - Brazil
Número total de Afiliações: 3
|
| Tipo de documento: | Artigo Científico |
| Fonte: | Clinics; v. 65, n. 9, p. 865-869, SEP 2010. |
| Citações Web of Science: | 18 |
| Resumo | |
INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ←This is probably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions. OBJECTIVES: To describe clinical and laboratorial data and phenotypic characteristics of patients with DiGeorge Syndrome. METHODS: Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities. RESULTS: Of 14 patients (8m - 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncal malformation (n = 12), facial abnormalities (n = 11), hypocalcemia (n = 5) and low lymphocyte count (n=2). CONCLUSION: The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up. (AU) | |
| Processo FAPESP: | 08/58238-4 - Autoimunidade na criança: investigação das bases moleculares e celulares da autoimunidade de início precoce |
| Beneficiário: | Magda Maria Sales Carneiro-Sampaio |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |