Hypoglycemia caused by AKT2 gene mutation:a case report and literature review
10.3760/cma.j.cn114798-20210627-00498
- VernacularTitle:AKT2基因突变致低血糖症一例并文献复习
- Author:
Mu DU
1
;
Fuying SONG
;
Xiaobo CHEN
Author Information
1. 首都儿科研究所附属儿童医院内分泌科，北京 100020
- Keywords:
Hypoglycemia;
Facial asymmetry;
Congenital Hyperinsulinism;
AKT2 gene;
Hemihypertrophy
- From:
Chinese Journal of General Practitioners
2021;20(11):1171-1175
- CountryChina
- Language:Chinese
-
Abstract:
A 15-month-old baby girl presenting with hypoglycemia was admitted in Children′s Hospital of Capital Institute of Pediatrics in October 2019. The blood glucose level was 2.4 mmol/L at admission, she showed asymmetry of left and right limbs. The levels of D-3-hydroxybutyric acid, urinary ketone body and free fatty acid were all decreased during hypoglycemia attack, the hyperglycemic hormone was increased, but insulin level was<0.2 μIU/ml. The whole exon gene testing showed that the patient had heterozygous mutation of AKT2 gene c.49G>A (p.E17K), which was mosaicism; then the patients was diagnosed as hypoinsulinemic hypoketotic hypo-fatty-acidemic hypoglycemia due to mutation of AKT2 gene. Blood glucose levels were dynamically monitored, high carbohydrate diet was administered and raw corn starch supplementation was given before bedtime. After 18 months of treatment, the growth and development of the patient was normal, the frequency of hypoglycemia attacks decreased, and bilateral limb asymmetry improved. The relevant literature was searched from Wanfang Database, CNKI and PubMed from January 1980 to March 2021 by using search term"hypoglycemia"and"AKT2 gene". Five cases of hypoglycemia caused by AKT2 mutation were retrieved, all were reported from other countries, no one case from China. The clinical manifestation of this disease is similar to hyperinsulinemic hypoglycemia, but insulin could not be detected during the attack of hypoglycemia, and the patients may have hemihypertrophy. The study suggests that if the patient has hypoglycemia accompanied by hypoinsulinemia and hemihypertrophy, we should consider the possibility of AKT2 gene mutation, and genetic testing should be recommended.
