The analysis of clinical manifestations and genetic mutations in a child with hereditary fructose intolerance

  • DING Yu ,
  • CHANG Guoying ,
  • WANG Xiumin ,
  • LI Niu ,
  • YE Xiaoqin ,
  • LI Juan ,
  • WANG Jian ,
  • SHEN Yiping
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  • 1.The Third People’s Hospital of Bengbu, Bengbu 233000, Anhui, China; 2.Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China

Received date: 2017-12-15

  Online published: 2017-12-15

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-3month 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.

Cite this article

DING Yu , CHANG Guoying , WANG Xiumin , LI Niu , YE Xiaoqin , LI Juan , WANG Jian , SHEN Yiping . The analysis of clinical manifestations and genetic mutations in a child with hereditary fructose intolerance[J]. Journal of Clinical Pediatrics, 2017 , 35(12) : 885 . DOI: 10.3969/j.issn.1000-3606.2017.12.002

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