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- Title
Prevalencia de enfermedades metabólicas congénitas detectadas mediante tamiz neonatal en la ciudad de Oaxaca, México.
- Authors
Concepción Vásquez-Martínez, Rosaluz; Franuel Martínez-Chávez, Fernando; Lugo-Radillo, Agustín; Villarreal-Ríos, Enrique; Galicia-Rodríguez, Liliana; Elizarrarás-Rivas, Jesús
- Abstract
Introduction: congenital metabolic diseases (CMD) are a group of disorders caused by a genetic mutation that leads to specific enzymatic dysfunction and can mostly be diagnosed through neonatal screening. Objective: to determine the prevalence of CMD identified by neonatal screening in newborns care for in a Family Medicine Unit in Oaxaca City, Mexico. Material and methods: cross-sectional study carried out with newborns treated in the period 2019 to 2022. The neonatal screening was performed with the Guthrie card and the confirmation of a CME was made by specific diagnostic tests. Prevalence rates are presented in cases per 1,000 newborns. Results: during the study period, 1,859 newborns underwent neonatal screening. Eightyfive newborns had a positive result on the screening, resulting in a prevalence of 45.7 per 1,000 newborns, with hypothyroidism being the most frequent (rate 16.7). Of the 85 with a positive screening, diagnostic confirmation was obtained only in nine patients: seven with adrenal hyperplasia and two with congenital hypothyroidism. Conclusions: in this study, the prevalence of congenital adrenal hyperplasia and congenital hypothyroidism is higher than that previously reported in Mexico, at the national level.
- Publication
Revista Mexicana de Pediatria, 2023, Vol 90, Issue 6, p227
- ISSN
0035-0052
- Publication type
Article
- DOI
10.35366/117390