The clinical and genetic analysis of glycogen storage disease type IV in 5 cases
10.3969/j.issn.1000-3606.2018.03.013
- VernacularTitle:Ⅳ型糖原累积病5例临床和基因分析
- Author:
Di FANG
1
;
Wenjuan QIU
;
Jun YE
;
Lianshu HAN
;
Huiwen ZHANG
;
Yongguo YU
;
Lili LIANG
;
Zhuwen GONG
;
Hui YAN
;
Jianguo WANG
;
Xuefan GU
Author Information
1. 上海交通大学医学院附属新华医院 上海儿科医学研究所内分泌/遗传科
- Keywords:
glycogen storage disease type IV;
GBE1 gene;
target sequencing;
chitotriosidase
- From:
Journal of Clinical Pediatrics
2018;36(3):216-220
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the characteristics of glycogen storage disease type IV (GSD IV) clinically, in laboratory tests and in gene mutation. Methods The clinical manifestations, biochemical indexes, activity of chitotriosidase, and the follow-up of the treatment in 5 cases of GSD IV were analyzed. Results Five patients (3 boys and 2 girls) aged 4 months - 5 years presented hepatosplenomegaly and elevated liver enzyme levels for 2 months at hospital visit. Two patients had motor developmental delay and weakness but their creatine kinase (CK) level were normal. Glycogen storage and liver fibrosis were observed in the liver biopsy in 4 patients. Target sequencing found that all 5 children carried the complex heterozygous mutation of the GBE1 gene with 2 reported mutations(p.R515C,p.R524Q)and 7 novel mutations.The novel mutation contains 5 missense mutations (p.I460T, p.F76S, p.F538V, p.L650R, p.W455R), one insertion mutations (c.141_142insGCGC), and one large fragment deletion (exon 3-7). Therefore, diagnosis of liver type of GSD IV was confirmed in those children. Two patients died of liver cirrhosis. The liver transplantation was performed due to liver cirrhosis in one patient whose chitotriosidase activity increased obviously before transplantation and decreased significantly after the transplantation and liver enzyme levels were returned to normal 4 months after transplantation. In the other two patients their growth and liver enzyme levels were normal;one had not received special treatments while the other was treated with raw corn starch and level of chitotriosidase was normal. Conclusions The clinical manifestations of GSD IV are heterogeneous. Target sequencing can be used for fast and noninvasive diagnosis of GSD IV. Chitotriosidase activity is useful in the prognosis assessment for GSD IV.
