Chronic granulomatous disease and Mcleod syndrome caused by continuous X chromosome deletion：a report of two cases and literature review
10.3969/j.issn.1000-3606.2016.08.013
- VernacularTitle:X染色体连续缺失致慢性肉芽肿病和Mcleod综合征2例报告并文献复习
- Author:
Jianxin HE
;
Yajie GUO
;
Xueli FENG
;
Lei WANG
;
Baoping XU
;
Xiuyun LIU
;
Kunling SHEN
;
Zaifang JIANG
- Publication Type:Journal Article
- Keywords:
Mcleod syndrome (acanthocytosis);
X-linked chronic granulomatous disease;
child
- From:
Journal of Clinical Pediatrics
2016;34(8):614-617
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features of chronic granulomatous diseases and Mcleod syndrome caused by continuous X chromosome deletion. Methods The clinical data of two children diagnosed as chronic granulomatous disease and Mcleod syndrome by gene detection were retrospectively analyzed. Results Two males, 4 year 1 month and 1 year 9 month old, were both hospitalized due to persistent pulmonary infections. Both of them had a history of repeated severe infections and BCG vaccine associated lymphadenitis, and were diagnosed as X-linked chronic granulomatous disease for respiratory burst defects and deletion of all CYBB exons. Both of them had retarded motor development, and were diagnosed as DMD for detection of DMD gene exons and muscle speciifc promoter region and exon 1-2 deletion by MLPA. One case was found with obvious echinocytes, the other case showed whole exons deletion of XK gene. Both of them were diagnosed as Mcleod syndrome. Conclusion Continuous X chromosome deletion could lead to combination of Mcleod syndrome, DMD, and X-CGD, which may complicate the condition. Due to the lack of Kx antigen, repeated common blood transfusion can produce relative antibody, which lead to severe hemolytic crisis.
