A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 176-179, 2019.
Article
в Zh
| WPRIM
| ID: wpr-774106
Ответственная библиотека:
WPRO
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.
Полный текст:
1
База данных:
WPRIM
Основная тема:
Osteochondrodysplasias
/
Congenital Abnormalities
/
EIF-2 Kinase
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Diabetes Mellitus, Type 1
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Epiphyses
/
Mutation
Пределы темы:
Female
/
Humans
/
Infant
Язык:
Zh
Журнал:
Chinese Journal of Contemporary Pediatrics
Год:
2019
Тип:
Article