Clinical features of Wiskott-Aldrich syndrome: an analysis of 13 cases / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 463-467, 2019.
Article
en Zh
| WPRIM
| ID: wpr-774051
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To study the clinical features of Wiskott-Aldrich syndrome (WAS) in children.@*METHODS@#A retrospective analysis was performed for the clinical data of 13 children with WAS.@*RESULTS@#All 13 children were boys, with a median age of onset of 3 months (range 1-48 months) and a median age of 24 months (range 1-60 months) at the time of diagnosis. Of the 13 children, only 3 had typical WAS and the remaining 10 children had X-linked thrombocytopenia (XLT). The mean WAS score was 2 (range 1-3), the mean platelet count was 20.5×10/L [range (13-46)×10/L], and the mean platelet volume was 8.1 fl (range 6.7-12.1 fl). Lymphocyte subsets and immunoglobulins were measured for 4 children, among whom 1 (25%) had a reduction in both the percentage of CD3T cells per lymphocyte and lymphocyte per nuclear cells, 1(25%) had a reduction in CD3CD56 NK cells. Among these 4 children, 1 (25%) had an increase in IgG, 2 (50%) had a reduction in IgM, 1 (25%) had a reduction in IgA, and 4 (100%) had an increase in IgE. A total of 14 gene mutations belonging to 13 types were found in 13 children, among which there were 9 missense mutations (65%), 2 splicing mutations (14%), 2 nonsense mutation (14%), and 1 frameshift mutation (7%). The median follow-up time was 39 months (range 3-62 months), and all 13 children survived.@*CONCLUSIONS@#Children with WAS often have a young age of onset, and most of them are boys. Major clinical features include thrombocytopenia with a reduction in platelet volume. Missense mutation is the main type of gene mutation.
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Trombocitopenia
/
Síndrome de Wiskott-Aldrich
/
Estudios Retrospectivos
/
Proteína del Síndrome de Wiskott-Aldrich
/
Mutación
Tipo de estudio:
Observational_studies
Límite:
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2019
Tipo del documento:
Article