Diagnosis and treatment procedures of congenital neutropenia.
- Author:
Man QIAO
1
;
Sheng-Li XUE
;
Jing-Ying ZOU
;
Lan DAI
;
Hui-Wen LIU
;
Yan CHEN
;
Ai-Ning SUN
;
De-Pei WU
Author Information
1. The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu Province, China.
- Publication Type:Case Reports
- MeSH:
Child;
DNA Mutational Analysis;
Humans;
Male;
Neutropenia;
congenital;
diagnosis;
genetics;
therapy;
Receptors, Granulocyte Colony-Stimulating Factor;
metabolism
- From:
Journal of Experimental Hematology
2012;20(5):1221-1224
- CountryChina
- Language:Chinese
-
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.
