Novel TBC1D8B variant causes neonatal nephrotic syndrome combined with acute kidney injury

Novel TBC1D8B variant causes neonatal nephrotic syndrome combined with acute kidney injury

Abstract Background Nephrotic syndrome (NPHS), characterized by proteinuria, hypoalbuminemia, and edema, can be caused by genetic variations. TBC1D8B was recently discovered as a novel disease-causing gene for X-linked NPHS. With only a few reported cases, the clinical manifestations associated with...

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Bibliographic Details
Main Authors: Yuanyuan Xu, Chao Dai, Jing He, Yaping Liang, Ying Zhu, Fang Deng, Chang Wang, Danqun Jin
Format: Article
Language:English
Published: BMC 2024-10-01
Series:Italian Journal of Pediatrics
Subjects:
Acute kidney injury
Nephrotic syndrome
TBC1D8B
Genetic testing
Online Access:https://doi.org/10.1186/s13052-024-01790-y
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