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.
Artigo
em Chinês
| WPRIM
| ID: wpr-774106
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteocondrodisplasias
/
Anormalidades Congênitas
/
EIF-2 Quinase
/
Diabetes Mellitus Tipo 1
/
Epífises
/
Mutação
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2019
Tipo de documento:
Artigo
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