Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge / Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome

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 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).

Capacidad de predecir una recaída de lupus eritematoso generalizado, mediante anticuerpos anti-DNA de hebra doble, por la técnica de Farr / Predictive capacity of double stranded anti DNA antibodies for relapses in patients with inactive systemic lupus erythematosus using Farr technique

Background: Patients with inactive systemic lupus erythematosus (SLE) and elevated high affinity double-stranded anti-DNA antibodies (anti-dsDNA), measured using Farr technique, would have a risk of relapse that fluctuates between 40 to 80 percent according to different series. Aim: To study the association between anti-dsDNA levels measured using Farr technique and disease activity and their predictive capacity for relapses. Material and methods: Anti-dsDNA antibodies were measured according to Farr method in 60 healthy subjects, 69 patients with other connective tissue diseases and in 120 patients with SLE. Farr positive were considered those individuals with anti-dsDNA levels over 10.4 IU/ml. Disease activity, assessed using MEX-SLEDAI score was related with anti-dsDNA levels in 101 patients. Forty seven patients with inactive disease were followed for 17ñ14 months. Results: Anti-dsDNA levels were 3ñ2.5 IU/ml (range 1-26) in subjects without LED, and 127ñ500 IU/ml (range 1-5280) in patients with LED. Sixty subjects had an active SLE and 43 (72 percent) were Farr positive; in 41 the disease was inactive and 13 (32 percent) were Farr positive (p <0.001), OR 5.45. Twelve of the 47 followed patients had a relapse and 10 (83 percent) were Farr positive. Of those that did not have a relapse, 13 (37 percent) were Farr positive (p< 0.02, RR 5.22). Six of 15 patients that were followed for more than on year (40 percent), were Farr positive. Conclusions: Elevated anti-dsDNA antibodies measured using Farr technique in patients with inactive generalised lupus erythematosus, predicted the risk of relapse. However less than half of patients with inactive disease and elevated Farr relapsed in a period of one year. The need to treat patients with inactive SLE and positive Farr should therefore be considered debatable