[Screening for Duchenne muscular dystrophy in newborns in the Ningxia region]. / å®å¤å°åºæ°çå¿ææ°èè¥å
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Zhongguo Dang Dai Er Ke Za Zhi
; 26(3): 258-261, 2024 Mar 15.
Article
en Zh
| MEDLINE
| ID: mdl-38557377
ABSTRACT
OBJECTIVES:
To evaluate the incidence rate of Duchenne muscular dystrophy (DMD) in the male newborns in the Ningxia region and establish a critical threshold for screening DMD in newborns to distinguish between the normal population and affected individuals.METHODS:
A total of 10 000 male newborns were screened using immunofluorescence analysis of creatine kinase isoenzyme concentrations in heel spot dried blood specimens. Newborns with the concentrations higher than the critical threshold were recalled for serum creatine kinase measurements. Genetic testing was performed to confirm diagnosis in cases showing abnormalities.RESULTS:
Among the screened 10 000 male newborns, two were confirmed to have DMD through genetic testing, resulting in a preliminary estimated incidence rate of 1/5 000 for male newborns in the Ningxia region. The critical threshold for creatine kinase isoenzyme concentration in newborns in this region was determined to be 468.57 ng/mL.CONCLUSIONS:
Screening for DMD in newborns is feasible in the Ningxia region. Early screening, diagnosis, and treatment of DMD can improve the quality of life for affected individuals and help families make informed decisions regarding further pregnancies.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Distrofia Muscular de Duchenne
Límite:
Humans
/
Male
/
Newborn
Idioma:
Zh
Revista:
Zhongguo Dang Dai Er Ke Za Zhi
Año:
2024
Tipo del documento:
Article
País de afiliación:
China