Chen Hongbo, Lyu Juan-Juan, Huang Zhuo, Sun Xiao-Mei, Liu Ying, Yuan Chuan-Jie, Ye Li, Yu Dan, Wu Jin
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.
Front Pediatr. 2022 Jun 9;10:897636. doi: 10.3389/fped.2022.897636. eCollection 2022.
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 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.
范可尼-比克综合征（FBS）是一种罕见的常染色体隐性碳水化合物代谢紊乱疾病。FBS的主要症状包括肝肿大、肾病、餐后高血糖、空腹低血糖和生长发育迟缓。低钾血症是FBS患者中罕见的临床特征。在本研究中，我们报告了一名患有FBS的新生儿。她表现为低钾血症、血糖异常、糖尿、肝肿大、肝功能异常以及脑部磁共振成像（MRI）异常。进行了三联全外显子测序（WES）和桑格测序以鉴定致病基因变异。鉴定出一个复合杂合突变（NM_000340.2；p.Trp420*）。在此，我们报告了一名来自近亲家庭的患有FBS的患者，伴有糖尿病、严重低钾血症及其他典型的FBS症状。具有常见临床特征的患者在生命早期可能仅通过表型难以诊断，但WES可能是一种重要工具。我们还讨论了FBS患者胰岛素的使用，并强调了持续葡萄糖监测系统（CGMS）的重要性，其不仅在诊断中，而且在避免低血糖事件方面都很重要。
