Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia

Frontiers in Pediatrics

Zhuo Huang²  Li Ye²  Juan-juan Lyu²  Chuan-jie Yuan²  Xiao-mei Sun²  Ying Liu²  Dan Yu²  Hongbo Chen²  Jin Wu² 

[1] Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China;Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China;

关键词: case report;    SLC2A2;    GLUT2;    Fanconi-Bickel syndrome;    hypokalemia;    diabetes;   

DOI  :  10.3389/fped.2022.897636

来源: DOAJ

【 摘 要 】

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive carbohydrate metabolism disorder. The main symptoms of FBS are hepatomegaly, nephropathy, postprandial hyperglycemia, fasting hypoglycemia, and growth retardation. Hypokalemia is a rare clinical feature in patients with FBS. In this study, we present a neonate suffering from FBS. She presented with hypokalemia, dysglycaemia, glycosuria, hepatomegaly, abnormality of liver function, and brain MRI. Trio whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants. A compound heterozygous mutation (NM_000340.2; p. Trp420*) of SLC2A2 was identified. Here, we report a patient with FBS in a consanguineous family with diabetes, severe hypokalemia, and other typical FBS symptoms. Patients with common clinical features may be difficult to diagnose just by phenotypes in the early stage of life, but WES could be an important tool. We also discuss the use of insulin in patients with FBS and highlight the importance of a continuous glucose monitoring system (CGMS), not only in diagnosis but also to avoid hypoglycemic events.

【 授权许可】

Unknown