Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge

• Marlene Aglony I ^[1] ; Macarena Lizama C ^[1] ; Cecilia Méndez R ^[1] ; Carmen Navarrete S ^[3] ; Francisco Garay G ^[1] ; Gabriela Repetto L ^[1] ; Rebeca Pérez L ^[1] ; Flavio Carrión A ^[2] ; Eduardo Talesnik G ^[1]
  1. [1] Pontificia Universidad Católica de Chile

     Pontificia Universidad Católica de Chile

     Santiago, Chile

     
  2. [2] Universidad de Los Andes

     Universidad de Los Andes

     Colombia

     
  3. [3] Hospital Roberto del Río Servicio de Pediatría

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• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 132, Nº. 1, 2004, págs. 26-32
• Idioma: español
• Títulos paralelos:
  • Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome
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• Resumen

  • 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 and methods: 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)