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
Article
in Spanish
| LILACS
| ID: lil-359175
Responsible library:
CL12.1
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).
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
DiGeorge Syndrome
Type of study:
Diagnostic study
Limits:
Humans
Country/Region as subject:
South America
/
Chile
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2004
Document type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Hospital Roberto del Río/CL
/
Pontificia Universidad Católica de Chile/CL
/
Universidad de los Andes/CL