A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report

• Main Authors: Jiajia Ni (Author), Yaju Zhu (Author), Fujun Lin (Author), Wenbin Guan (Author), Jing Jin (Author), Yufeng Li (Author), Guimei Guo (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundDent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.Case presentationHere we report one 11-year-old Chinese boy (proband) and...