A novel CLCN5 mutation in a Chinese boy with Dent's disease.

BACKGROUND: Dent's disease is a rare X-linked recessive hereditary disease caused by mutations in either the CLCN5 or OCRL1 genes. This disease is characterized by manifestations of proximal renal tubule dysfunction associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure.

METHODS: We report a Chinese boy with Dent's disease, clinically diagnosed by LMWP and hypercalciuria. Genetic analysis was made of the CLCN5 and OCRL1 genes. Related studies were also reviewed.

RESULTS: A splice site mutation IVS6, +2T>C of the CLCN5 gene was revealed in this case, and it was not reported previously.

CONCLUSIONS: Clinical and genetic analysis is valuable for the diagnosis of Dent's disease. A novel mutation in the CLCN5 gene was identified in our patient.