Abstract
We reported a family with Dent's disease. The 3-year-old boy showed proteinuria (150mg/dl), 49.5% of which comprised low molecular weight protein. Urinary BMG was 37,602μg/l. CCN5 gene of the patient and his mother was analyzed when he was 8 years old. The proband was homozygous for the mutant gene and his mother was heterozygous. At age 10 years he developed nephrocalcinosis and massive proteiuria (2.1g/day). By analyzing urinary protein we detected two other patients in his family, his uncle and his mother's cousin. They had the history of hospital admissiou due to “glomerulonephritis” at age 3 years and 8 years, respectively. They showed mild proteiuria (+) at age 30 years and 34 years, respectively. His ancle showed normal renal function and mild nephrocalcinosis at 38 years.
These findings suggest that Dent's disease shows diverse phenotypic heterogeneity.
