Dent disease
(dent)
[Charles Enrique Dent, Brit. biochemist, 1911–1976]
A rare, X-linked disease that causes renal tubular dysfunction and is characterized by secretion of abnormal amounts of calcium in the urine, kidney stone formation, rickets, and , eventually, renal failure.
Symptoms and Signs: Affected children usually report urinary frequency or symptoms of kidney stones (pain in the flank, urethra, or scrotum; and /or bloody urine).
Diagnosis: The disease is suggested by the presence of abnormal calcium, phosphate, and protein concentrations in urine (hypercalciuria and proteinuria) in young patients with a history of kidney stones or chronic kidney disease. It can be confirmed with genetic testing.
Treatment: Treatment for hypercalciuria, such as restriction of dietary sodium, is often recommended.
Patient Care: Dietary calcium should not be restricted. Oral citrates may reduce urinary calcium excretion. Patients with bone disease (rickets or osteomalacia) benefit from vitamin D supplements.SYN: X-linked recessive nephrolithiasis.