Clinical characteristics and genetic analyses of Korean children with Dent disease

Key Points

• To explore the clinical features and genetic underpinnings of Dent disease in Korean children.
• Conducted clinical evaluations of Korean children diagnosed with Dent disease.
• Performed genetic analyses to identify mutations linked to the disease.
• Monitored kidney function to assess progression and outcomes.
• Over one-third of affected children developed chronic kidney disease by early adulthood.
• Identification of specific genetic mutations contributing to disease variability.
• Increased awareness of the need for early genetic testing and monitoring.

Abstract