Vásquez-Martínez RC, Martínez-Chávez FF, Lugo-Radillo A, Villarreal-Ríos E, Galicia-Rodríguez L, Elizarrarás-Rivas J

Language: Spanish
References: 23
Page: 227-231
PDF size: 369.51 Kb.

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. Eighty-five 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.

REFERENCES

1. Chávez-Ocaña S, Bravata-Alcántara JC, Sierra-Martínez M. Errores innatos del metabolismo, una mirada a un tópico poco valorado. Rev Hosp Jua Mex. 2018; 85(3): 159-167.

2. Rodríguez A, Sanz M, Dulín E, Rodríguez Arnao MD. Cribado neonatal en enfermedades endocrinológicas. Rev Esp Endocrinol Pediatr. 2017; 8(Suppl): 47-61.

3. Rodríguez SA, Chueca GMJ, Alija MM, Ares SS, Moreno NJC, Rodríguez AMD. Diagnóstico y seguimiento de los pacientes con hipotiroidismo congénito diagnosticados por cribado neonatal. An Pediatría. 2019; 90(4): 250.e1-250.e8.

4. Cabello A JF, Gliugliani R. Errores innatos del metabolismo. Rev Med Clin Condes. 2015; 26(4) 483-486.

5. Rendón-Macías ME, Morales-García I, Huerta-Hernández E, Silva-Batalla A, Villasís-Keever MA. Birth prevalence of congenital hypothyroidism in Mexico. Paediatr Perinat Epidemiol. 2008; 22(5): 478-485. doi: 10.1111/j.1365-3016.2008.00955.x

6. Hinojosa TM, Vela AM, Ibarra GI, de Cosío FA, Herrera PLA, Caamal PG et al. Prevalencia al nacimiento de hipotiroidismo congénito. Acta Pediatr Mex. 2018; 39: 5S-3S. Disponible en: https://ojs.actapediatrica.org.mx/index.php/APM/article/view/1717

7. Sutton VR, Hahn S, TePas E. Inborn errors of metabolism: identifying the specific disorder. UpToDate. 2022; 1-21.

8. Sutton VR, Hahn S, TePas E. Metabolic emergencies in suspected inborn errors of metabolism: presentation, evaluation, and management. UpToDate. 2022; 1-28.

9. García FEP, Herrera MN, Hinojosa TMA, Vergara VM, Halley CME. Avances y logros del programa de tamiz metabólico neonatal en México (2012-2018). Acta Pediatr Mex. 2018; SI(39): 57S-65S.

10. Van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L et al. Congenital hypothyroidism: a 2020-2021 consensus guidelines update - an endo-European reference network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid. 2021; 31(3): 387-419.

11. López Galera RM, Castiñeiras Ramos D, Rocha H. Cribado neonatal del hipotiroidismo congénito. Rev Esp Salud Pública. 2021; 95: e1-14.

12. Instituto Mexicano del Seguro Social. Lineamiento técnico-médico para la detección y atención integral de las enfermedades metabólicas congénitas. 2020; 06-109.

13. Díaz A, Lipman Díaz EG. Hypothyroidism. Pediatr Rev. 2014; 35(8): 336-347.

14. Phaloprakarn C, Manusirivithaya S, Boonyarittipong P. Risk score comprising maternal and obstetric factors to identify late preterm infants at risk for neonatal intensive care unit admission. J Obstet Gynaecol Res. 2015; 41(5): 680-688.

15. Kurinczuk JJ, Bower C, Lewis B, Byrne G. Congenital hypothyroidism in Western Australia 1981-1998. J Paediatr Child Health. 2002; 38(2): 187-191.

16. McGrath N, Hawkes CP, McDonnell CM, Cody D, O'Connell SM, Mayne PD et al. Incidence of congenital hypothyroidism over 37 years in Ireland. Pediatrics. 2018; 142(4): e20181199. doi: 10.1542/peds.2018-1199.

17. Instituto Mexicano del Seguro Social. GPC Tamizaje, diagnóstico y tratamiento del paciente con Hiperplasia Suprarrenal Congénita por deficiencia de 21-hidroxilasa. Catálogo Maestro de Guías Práctica Clínica IMSS-715-14. CENETEC. 2014; 1-16.

18. Rodríguez A, Ezquieta B, Labarta JI, Clemente M, Espino R, Rodríguez A et al. Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa. AnPediatr (Barc). 2017; 87(2): 116.e1-116.e10.

19. Hinojosa TM, Arguinzoniz VS, Herrera PLA, Caamal-Parra G, Ibarra GI, Vela AM et al. Aspectos relevantes del tamiz neonatal para hiperplasia suprarrenal congénita. Acta Pediátrica de México. 2018; 39: 14S-24. doi: 10.18233/APM39No6pp14S-24-S1718.

20. Santiago Ramírez MDLA, Rosas Sumano AB. Oportunidad en el diagnóstico de hipotiroidismo congénito por tamiz neonatal en el Hospital General "Dr. Aurelio Valdivieso" de Oaxaca. Bol Clin Hosp Infant Edo Son. 2012; 29(1): 7-12.

21. Klosinska M, Kaczynska A, Ben-Skowronek I. Congenital hypothyroidism in preterm newborns - The challenges of diagnostics and treatment: a review. Front Endocrinol (Lausanne). 2022; 13: 1-12.

22. Sánchez GE. Factores para un embarazo de riesgo. Rev Méd Sinerg. 2019; 4(9): e319. Disponible en: https://revistamedicasinergia.com/index.php/rms/article/view/319

23. Guía de Práctica Clínica. Prevención, detección y diagnóstico de hipotiroidismo congénito en el primer nivel de atención. México, D.F: ISSSTE; 2015. Disponible en: https://www.cenetec-difusion.com/CMGPC/ISSSTE-135-08/ER.pdf