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DiGeorge Syndrome a not so rare disease

Angela B. F. Fomin Antonio Carlos Pastorino; Chong Ae Kim; Alexandre C Pereira; Magda Carneiro Sampaio; Cristina Miuki Abe Jacob

Clinics São Paulo v. 65, n. 9, p. 865-869, 2010

São Paulo 2010

Localização: FM - Fac. Medicina    (BCSEP 050/2010 )(Acessar)

  • Título:
    DiGeorge Syndrome a not so rare disease
  • Autor: Angela B. F. Fomin
  • Antonio Carlos Pastorino; Chong Ae Kim; Alexandre C Pereira; Magda Carneiro Sampaio; Cristina Miuki Abe Jacob
  • Assuntos: DOENÇAS IMUNOLÓGICAS (FISIOPATOLOGIA); DELEÇÃO DE GENES; TIMO (SISTEMAS SANGUÍNEO E IMUNE)
  • É parte de: Clinics São Paulo v. 65, n. 9, p. 865-869, 2010
  • Notas: Disponível online em: <http://www.scielo.br/pdf/clin/v65n9/09.pdf>. Acesso em: 04 abril 2011
  • Notas Locais: A BCFM possuí o material impresso
  • Descrição: 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. rThis 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. KEYWORDS: DiGeorge syndrome; Immunologic deficiency syndromes; Thymus; 22q11.2 deletion
  • Editor: São Paulo
  • Data de criação/publicação: 2010
  • Formato: p. 865-869.
  • Idioma: Português;Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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