Abstract

MORAES, Mariana et al. Descriptive study of patients with genetic pathology in a pediatric intensive care unit. Arch. Pediatr. Urug. [online]. 2024, vol.95, n.2, e216.  Epub Dec 01, 2024. ISSN 0004-0584.  https://doi.org/10.31134/ap.95.2.5.

Summary:

Given the importance of genetic pathology in pediatrics, a significant cause of infant morbidity and mortality, and taking into account the increase in patients with this pathology in Pediatric Intensive Care Units (PICU), we carried out a prospective, descriptive and cross-sectional study from January 1, 2020 to December 31, 2021 in a PICU in Uruguay. All patients discharged from the PICU with a diagnosis of confirmed or suspected genetic pathology were enrolled. The prevalence of genetic pathology was 17/244. Monogenic diseases were the most frequent (9/17), followed by suspected genetic diseases with no etiological orientation (6/17) and then chromosomal abnormalities (2/17). The frequency of mortality as well as the average days of hospitalization for these patients was higher. 12/17 underwent some invasive maneuvers or prosthesis placement during their stay. We believe it is essential that health providers have adequate training to detect warning signs to suspect a genetic disease, have specialized human resources in this area, as well as financial resources; this can mainly be achieved through health policies that contemplate this disease that individually are rare, but overall affect a significant part of the population.

Keywords : Medical Genetics; Rare Diseases; Pediatric Intensive Care Units.

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