Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge / Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome
Rev. méd. Chile
;
132(1): 26-32, ene. 2004. tab
Artigo
em Espanhol
| LILACS
| ID: lil-359175
RESUMO
Background:
DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands and thymus.Aim:
To describe the clinical variability of DiGeorge syndrome and its relation with immunodeficiency. Patients andmethods:
A three years retrospective chart review from three hospitals of Santiago, Chile was conducted. We included patients with neonatal diagnosis of DiGeorge syndrome. Clinical and immuno-logic data were collected from their initial evaluation.Results:
We found 9 patients with DiGeorge syndrome. All had dysmorphic facies, hypocalcemia and congenital heart disease. Three patients had hypoparathyroidism, 4 had interrupted aortic arch type B, 4 had tetralogy of Fallot and 1 had coarctation of aorta. Six patients had other malformations and associated diseases. FISH studies, performed in 8 patients, found the 22q11.2 microdeletion in all. Most patients had low CD3, CD4 and CD8 T cell counts, that ranged for CD3 T cells, between 256/mm3 and 3,664/mm3, for CD4 T cells, between 224/mm3 and 2,649/mm3, for CD8 T cells, between 26/mm3 and 942/mm3. Three patients had CD4 T cells counts <400/mm3 and one had a phytohemagglutinin stimulation index <10. Airway malformations and primary hypoparathyroidism were present in 3 out of 4 patients that died before 18 months compared with the surviving patients (p=0.048).Conclusions:
We found variable clinical manifestations as well as CD3, CD4 and CD8 T cell counts in patients with DiGeorge syndrome. Airway malformations were associated with a higher mortality (Rev Méd Chile 2004; 132 26-32).
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Síndrome de DiGeorge
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2004
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Hospital Roberto del Río/CL
/
Pontificia Universidad Católica de Chile/CL
/
Universidad de los Andes/CL
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