Investigating glucose metabolism in children with Williams-Beuren syndrome: A case study on WBS and DKA

  • Ying Zhang Department of Pediatrics, The First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine, Guangzhou 510405, China
  • Shunli Tang Department of Pediatrics, The First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine, Guangzhou 510405, China
  • Yabin Chen Department of Pediatrics, The First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine, Guangzhou 510405, China
  • Hua Liu Department of Pediatrics, The First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine, Guangzhou 510405, China
  • Xinmin Qiu Research Laboratory, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou 510405, China
  • Zhiren He Department of Nephrology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou 510405, China
DOI: https://doi.org/10.62617/mcb1336
Keywords: Williams-Beuren syndrome; diabetes mellitus; ketoacidosis
Article ID: 1336

Abstract

Objective: More attention should be paid to glucose metabolism in children with Williams-Beuren syndrome (WBS). Methods: The clinical data of a child diagnosed with WBS due to diabetic ketoacidosis (DKA) were retrospectively analyzed, and the related literature was reviewed. Results: An 8-year-old boy presented with thickened upper lip, low palatal arch, strong heart sound, rumbling murmur in the apex area, a little pigmentation in the webbed margin of fingers and toes, and atypical elfin features. Blood gas analysis showed severe ketoacidosis with significantly elevated amylase, significantly increased amylase, elevated blood lipids, abnormal thyroid function, negative C-peptide, diabetic. Echocardiography showed supravalvular aortic stenosis and abnormal continental valve. The large copy number variation of the nuclear genome revealed a heterozygous variation in the 7q11.23 region, with a 1.4 Mb deletion in the 7q11.23 region, and the related gene in the region was elastin gene. Conclusion: DKA was reported for the first time as the first symptom of WBS diabetes. The mechanism of concurrent DKA in WBS is not well understood.

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Published
2025-02-19
How to Cite
Zhang, Y., Tang, S., Chen, Y., Liu, H., Qiu, X., & He, Z. (2025). Investigating glucose metabolism in children with Williams-Beuren syndrome: A case study on WBS and DKA. Molecular & Cellular Biomechanics, 22(3), 1336. https://doi.org/10.62617/mcb1336
Issue
Vol. 22 No. 3 (2025)
Section
Article

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