The analysis of clinical manifestations and genetic mutations in a child with hereditary fructose intolerance
10.3969/j.issn.1000-3606.2017.12.002
- VernacularTitle:儿童遗传性果糖不耐受症1例临床和基因突变分析
- Author:
Xiaoqin YE
1
;
Guoying CHANG
;
Juan LI
;
Yu DING
;
Niu LI
;
Jian WANG
;
Xiumin WANG
;
Yiping SHEN
Author Information
1. 安徽省蚌埠市第三人民医院 安徽蚌埠 233000
- Keywords:
targeted gene sequencing;
hypoglycemia;
hereditary fructose intolerance;
ALDOB gene;
gene mutations
- From:
Journal of Clinical Pediatrics
2017;35(12):885-888
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analysis the clinical and gene mutation characteristics of hereditary fructose intolerance (HFI). Methods The clinical features and the results of gene testing in the child with HFI and her parents were analyzed retrospectively. Gene sequencing was carried out by high-throughput sequencing and validated by Sanger sequencing. Results The 4-year-3-month old girl had recurrent hypoglycemia episodes and growth retardation. When the condition was stable, the levels of lactic acid and urine micro protein were slightly higher, and the levels of thyroid hormone, cortisol, glycosylated hemoglobin, insulin and C peptide were normal.EEG showed epileptiform activity.Gene sequencing revealed the presence of aldolase B gene(ALDOB) compound heterozygous mutations, a novel splicing mutations (c.325-1G>A) in intron 3 and a frameshift mutation (c. 865delC;p.L289fs*10) in exon 8. Her father carries a frameshift mutation, and her mother carries a splicing mutation. Conclusion The diagnosis of HFI caused by ALDOB mutation can be confirmed by high-throughput sequencing technology.
