EIF2AK3基因相关Wolcott-Rallison综合征1例并文献复习

张惠洁; 王世彪; 郭晓峰; 翁斌; 林玲; 郝燕

doi:10.7499/j.issn.1008-8830.2019.02.014

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中国当代儿科杂志 ›› 2019, Vol. 21 ›› Issue (2) : 176-179. DOI: 10.7499/j.issn.1008-8830.2019.02.014

论著·临床研究

EIF2AK3基因相关Wolcott-Rallison综合征1例并文献复习

张惠洁², 王世彪¹, 郭晓峰¹, 翁斌², 林玲², 郝燕³

作者信息 +

A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review

ZHANG Hui-Jie², WANG Shi-Biao¹, GUO Xiao-Feng¹, WENG Bin², LIN Ling², HAO Yan³

Author information +

文章历史 +

摘要

患儿，女，1个月29 d。因抽搐6 d、发现血糖增高5 d入院。血糖波动于正常或增高，糖化血红蛋白因过高无法检测，尿糖+~++++，空腹C肽0.19 ng/mL，胰岛素11.68 μIU/mL。遗传性内分泌疾病基因Panel（检测基因412个，包含已知糖尿病相关基因49个）高通量测序发现患儿EIF2AK3基因存在新发c.2731_2732delAG和c.2980G > A复合杂合突变，均位于基因的激酶结构域。该婴儿被确诊为Wolcott-Rallison综合征（WRS）。WRS是一种罕见的常染色体隐性遗传疾病，以新生儿糖尿病、多发性骨骺发育不良和肝脏疾病为特征，新生儿糖尿病是WRS诊断的必备条件，EIF2AK3基因是WRS的致病基因。

Abstract

The patient was a female infant aged 1 month and 29 days. She was admitted to the hospital due to convulsions for 6 days and increased blood glucose level for 5 days. She had unstable blood glucose levels. The level of glycosylated hemoglobin was too high to measure. Urine glucose was positive (+-++++). The levels of fasting C-peptide and insulin were 0.19 ng/mL and 11.68 μIU/mL respectively. High-throughput sequencing of the genetic endocrine disease gene Panel (412 detected genes, including 49 known diabetes-related genes) showed that the EIF2AK3 gene in the infant had two novel compound heterozygous mutations, c.2731_2732delAG and c.2980G > A, both of which were located in the kinase domain. The infant was diagnosed with Wolcott-Rallison syndrome (WRS). As a rare autosomal recessive disease, WRS is characterized by neonatal diabetes, multiple epiphyseal dysphasia and liver disease. Neonatal diabetes is a prerequisite for the diagnosis of WRS. The EIF2AK3 gene is the pathogenic gene of WRS.

导出引用

张惠洁, 王世彪, 郭晓峰, 翁斌, 林玲, 郝燕. EIF2AK3基因相关Wolcott-Rallison综合征1例并文献复习[J]. 中国当代儿科杂志. 2019, 21(2): 176-179 https://doi.org/10.7499/j.issn.1008-8830.2019.02.014

ZHANG Hui-Jie, WANG Shi-Biao, GUO Xiao-Feng, WENG Bin, LIN Ling, HAO Yan. A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review[J]. Chinese Journal of Contemporary Pediatrics. 2019, 21(2): 176-179 https://doi.org/10.7499/j.issn.1008-8830.2019.02.014

参考文献

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