Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 6, 2020; 8(21): 5467-5473
Published online Nov 6, 2020. doi: 10.12998/wjcc.v8.i21.5467
Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature
Li-Jing Xiong, Mao-Ling Jiang, Li-Na Du, Lan Yuan, Xiao-Li Xie
Li-Jing Xiong, Mao-Ling Jiang, Li-Na Du, Lan Yuan, Xiao-Li Xie, Department of Gastroenterology, Hepatology and Nutrition, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610091, Sichuan Province, China
Author contributions: Xiong LJ, Jiang ML, and Du LN were the patient’s doctors for diagnosis, treatment, and follow-up; Xiong LJ reviewed the literature and contributed to manuscript drafting; Yuan L interpreted the results of testing and findings; Xie XL performed the disease consultation and was responsible for the revision of the manuscript; all authors declared no conflicts of interest and issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained from patient’s parents for publication of this report and any testing results.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist, and the manuscript was prepared and revised according to the CARE Checklist.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Li-Jing Xiong, MD, Attending Doctor, Gastroenterology, Hepatology and Nutrition, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, No. 1617 Riyue Avenue, Chengdu 610091, Sichuan Province, China. xionglijing1985@qq.com
Received: May 26, 2020
Peer-review started: May 26, 2020
First decision: September 14, 2020
Revised: September 16, 2020
Accepted: September 26, 2020
Article in press: September 26, 2020
Published online: November 6, 2020
Abstract
BACKGROUND

Fanconi–Bickel syndrome (FBS) is a rare autosomal recessive disorder caused by mutation of the SLC2A2 gene, which encodes glucose transporter protein 2 (GLUT2).

CASE SUMMARY

We report a 7-mo-old girl with cytomegalovirus infection presenting hepatomegaly, jaundice, liver transaminase elevation, fasting hypoglycemia, hyperglycosuria, proteinuria, hypophosphatemia, rickets, and growth retardation. After prescription of ganciclovir, the levels of bilirubin and alanine aminotransferase decreased to normal, while she still had aggravating hepatomegaly and severe hyperglycosuria. Then, whole exome sequencing was conducted and revealed a homozygous c.416delC mutation in exon 4 of SLC2A2 inherited from her parents, which was predicted to change alanine 139 to valine (p.A139Vfs*3), indicating a diagnosis of FBS. During the follow-up, the entire laboratory test returned to normal with extra supplement of vitamin D and corn starch. Her weight increased to normal range at 3 years old without hepatomegaly. However, she still had short stature. Although there was heterogeneity between phenotype and genotype, Chinese children had typical clinical manifestations. No hot spot mutation or association between severity and mutations was found, but nonsense and missense mutations were more common. Data of long-term follow-up were rare, leading to insufficient assessment of the prognosis in Chinese children.

CONCLUSION

FBS is a rare genetic metabolic disease causing impaired glucose liver homeostasis and proximal renal tubular dysfunction. Results of urine and blood testing suggesting abnormal glucose metabolism could be the clues for FBS in neonates and infants. Genetic sequencing is indispensable for diagnosis. Since the diversity of disease severity, early identification and long-term follow-up could help improve patients’ quality of life and decrease mortality.

Keywords: Fanconi–Bickel syndrome, Glucose transporter protein 2, Case report, Children, Chinese

Core Tip: Fanconi–Bickel syndrome (FBS) is a rare genetic metabolic disease causing impaired glucose liver homeostasis and proximal renal tubular dysfunction. Results of urine and blood testing suggesting abnormal glucose metabolism could be the clues for FBS in neonates and infants. Genetic sequencing is indispensable for diagnosis. Since the diversity of disease severity, early identification and long-term follow-up could help improve patients’ quality of life and decrease mortality.