Renal insufficiency caused by TMEM216 gene mutation: Case Report

This study presents a severe case of renal dysfunction attributed to mutations in the <i>TMEM216</i> gene, thereby expanding the clinical phenotypic spectrum associated with this gene. Mutations in ciliopathy-related genes may contribute to proteinuria and renal failure by disrupting the polarization and functionality of renal tubular epithelial cells. For young patients with unexplained CKD, genetic testing can serve as an early diagnostic tool to identify the underlying etiology and facilitate personalized treatment strategies. Future research on <i>TMEM216</i>-related nephropathy should aim to further elucidate its pathogenic mechanisms and explore potential therapeutic targets to enhance patient outcomes and advance precision medicine.