Diagnosis and treatment procedures of congenital neutropenia / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 1221-1224, 2012.
Article
em Zh
| WPRIM
| ID: wpr-278402
Biblioteca responsável:
WPRO
ABSTRACT
To explore the reasonable procedures and strategies of diagnosis and treatment of congenital neutropenia (CN), clinical data and laboratory examination results of a boy suspected of CN were collected; gene ELA2, GFI1, HAX1, and WASp of whom were sequenced, granulocyte colony-stimulating factor receptor (G-CSFR) expression on neutrophil was analyzed, and cytoplasmic domain of G-CSFR was sequenced. The results showed that the diagnosis of non-syndromic variants of CN (NSVCN) was made on this patient according to the criteria; sequencing results revealed no mutation occurred in ELA2, GFI1, HAX1 and WASp; a normal expression level of G-CSFR on neutrophil from this patient was detected and no truncated mutation was found in the intracellular domain of G-CSFR. It is concluded that reasonable procedure of diagnosis and treatment of CN is established, and a sporadic NSVCN with no recognized pathogenic mutation is confirmed in this patient.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Terapêutica
/
Análise Mutacional de DNA
/
Receptores de Fator Estimulador de Colônias de Granulócitos
/
Diagnóstico
/
Genética
/
Metabolismo
/
Neutropenia
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2012
Tipo de documento:
Article