Diagnosis and treatment procedures of congenital neutropenia / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 1221-1224, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-278402
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Terapéutica
/
Análisis Mutacional de ADN
/
Receptores de Factor Estimulante de Colonias de Granulocito
/
Diagnóstico
/
Genética
/
Metabolismo
/
Neutropenia
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Journal of Experimental Hematology
Año:
2012
Tipo del documento:
Artículo
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