Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico
J. inborn errors metab. screen
;
9: e20210001, 2021. tab, graf
Artículo
en Inglés
|
LILACS-Express
| LILACS
| ID: biblio-1250217
ABSTRACT
Abstract Introduction:
Any abnormal newborn screening (NBS) test should be subjected to appropriate diagnostic tests and should be followed. Once the newborn has been diagnosed and treated, the family should receive comprehensive genetic services.Aim:
To present the experience of studying older siblings of patients with inborn errors of metabolism (IEM) identified by NBS in a single-national follow-up reference center.Methods:
A retrospective analysis of medical files of the IEM patients detected by NBS was conducted. All those older siblings who tested positive for the same IEM of the patient detected by newborn screening were included.Results:
A total of 26 positive siblings from 18 families with seven different IEM were found (phenylketonuria, argininemia, glucose-6-phosphate dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, dihydropteridine reductase deficiency, tyrosinemia type 3, and medium chain acyl-CoA dehydrogenase deficiency). The age range of the affected siblings was 2 to 19 years old, with a mean age of 8.5 years. Ten older siblings (38.5%) had clinical consequences for the disease, including severe intellectual disability.Conclusions:
It is necessary to study older siblings, and family history and genetic counseling of all NBS-detected families should be recommended, especially in countries where expanded NBS programs are beginning.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
/
Estudio de tamizaje
País/Región como asunto:
México
Idioma:
Inglés
Revista:
J. inborn errors metab. screen
Asunto de la revista:
Medicina Cl¡nica
/
Patologia
Año:
2021
Tipo del documento:
Artículo
País de afiliación:
México
Institución/País de afiliación:
Instituto Nacional de Pediatría, Laboratorio de Errores Innatos del Metabolismo y Tamiz/MX
/
UNAM/MX
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