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


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. Copyright © 2022 Chen, Lyu, Huang, Sun, Liu, Yuan, Ye, Yu and Wu.

Authors Chen H, Lyu JJ, Huang Z, Sun XM, Liu Y, Yuan CJ, Ye L, Yu D, Wu J
Journal Frontiers in pediatrics
Publication Date 2022;10:897636
PubMed 35757134
PubMed Central PMC9218529
DOI 10.3389/fped.2022.897636

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