Evaluation of factors associated with recurrent and/or severe infections in patients with Down's syndrome

Abstract

Objectives: to evaluate epidemiological, clinical and laboratorial aspects of patients with Down syndrome, who present recurrent and/ or severe infections, as well as to evaluate the presence of immunodeficiency in this population.Methods: patients with Down syndrome diagnosed by chromosome analysis with recurrent and/or severe infections, followed at the Allergy and Immunology Unit of Children's Institute from 1990 to 1999, were submitted to an epidemiological, clinical and laboratorial protocol, including immunological aspects.Results: sex distribution was 1.6 M:1 F, with age ranging from 1 to 12 years and 10 months (average = 2y7m). Forty patients reported recurrent infections and five, sepsis. Out of all patients with recurrent infection, 31 fulfilled the repeated infection criteria, with pneumonia and rhinopharyngitis as the most common infections. Congenital heart diseases were found in 62.2% of cases, more frequent in the repeated pneumonia group. Immunological evaluation showed two cases with IgG2 deficiency, two with low lymphocytes CD4+ count, and two cases with reduced blastogenic response to mitogens. Five cases had reduced NK cells function. Seropositivity for CMV was found in 22 of 36 cases analyzed (61.1%).Conclusions: although the data found in this study are valid for this specific population, the authors point out the necessity of the immunodeficiency research in Down syndrome patients with maintenance of infection besides the appropriated control of associated diseases.

Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil

“…9,35 In this study, 56.5% of the children presented congenital heart diseases, similar frequency in Brazilian studies, which ranges from 51 to 62.2%. 7,11 The frequencies of types of congenital heart diseases were similar between our study and Ribeiro et al 11 with a greater frequency of interatrial communication in both studies (62% and 46.4%, respectively). In Granzotti et al´s study, 7 frequencies of types of congenital heart diseases differ from those observed in our study.…”

“…However, some characteristics in frequency and severity are variable among the individuals. 5,6,11,29 . The knowledge of clinical manifestations of DS by physicians and other health professionals is important to make an early postnatal diagnosis possible, since prenatal diagnosis is not frequently performed, as in our sample, where all cases were diagnosed in the postnatal period, with diagnostic hypothesis confirmed by cytogenetic analysis.…”

“…Bibliographic reviews on DS have shown a large variability of these frequencies. 1,[4][5][6][7][8][10][11][12][16][17][18]31 . Comparison of frequencies observed in our study and other studies disclosed significant statistical differences for most characteristics (Table 2).…”

“…Its incidence is approximately 1:660 live births 1 , and it is the most common genetic cause of mental disability. 2,3 DS phenotype is complex and varies among individuals, who may present a combination of dysmorphic features, [4][5][6] congenital heart disease, 7,8,9 neurological abnormalities, such as early manifestation of Alzheimer's disease, 10 immunological deficiency, 11 and elevated risk of specific types of leukemia, 12 among other clinical complications. [13][14][15] .…”

Congenital Duodenal Obstruction: The Impact of Downs Syndrome in Neonatal Morbidity. A Two-Center Survey

“…Down syndrome (DS) is responsible for one third of these [5]. About 9.2% of DS babies do not survive the neonatal period [6], mainly because of associated birth defects [7] and immunodeficiency [8][9][10][11]. We could find only two references in literature regarding the outcome when DS is associated with CDO [12,13].…”