Kearns-Sayre syndrome presenting with fanconi syndrome: a case report
Mitochondrial mutations may contribute to the development of Fanconi syndrome. Fanconi syndrome may present as the initial manifestation of KSS. KSS should be considered in pediatric patients presenting with Fanconi syndrome and extrarenal manifestations, such as ptosis.
Authors
- Yixiu Lu
- Hongmei Song (ORCID: https://orcid.org/0000-0001-9801-2517)
- Jian Shan (ORCID: https://orcid.org/0000-0002-7117-4564)
- Zhenjie Zhang (ORCID: https://orcid.org/0000-0003-1079-8784)
- Min Wei (ORCID: https://orcid.org/0000-0001-6812-733X)
- Min Qian (ORCID: https://orcid.org/0000-0002-9705-7294)
- Juan Xiao (ORCID: https://orcid.org/0000-0002-9480-9470)
- Zhengqing Qiu
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- Translational Pediatrics
- Published
- 2025-05-01
- DOI
- https://doi.org/10.21037/tp-2025-138
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00