Dent disease

Disease Overview

Dent disease is a chronic kidney disease that primarily affects males. While symptoms and severity vary, they usually begin in childhood and worsen over time. The most common feature of Dent disease is proteinuria (protein in the urine). Other common features include excess calcium in the urine (hypercalciuria); calcium deposits in the kidneys (nephrocalcinosis); and kidney stones.[8691] Less common features include rickets and mildy short stature. Progressive kidney problems often lead to kidney failure by early to mid-adulthood.[8691][8692]

There are two forms of Dent disease which are distinguished based on their genetic causes. Both forms are inherited in an X-linked recessive manner.[8691]

• Dent disease type 1 is caused by a mutation in the CLCN5 gene.
• Dent disease type 2 is caused by a mutation in the OCRL gene. Males with this form are also at increased risk for mild intellectual disability and hypotonia.[8691][8692]

Treatment is based on the symptoms present, aiming to delay progression of kidney disease and improve quality of life.[8692]

Synonyms

• Dent's disease
• Dents disease
• Dent syndrome
• Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
• Renal Fanconi syndrome with nephrocalcinosis and renal stones
• X-linked recessive hypercalciuric hypophosphatemic rickets
• X-linked recessive nephrolithiasis