[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).
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 for hypercalciuria, such as restriction of dietary sodium, is often recommended.
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: SEE: X-linked recessive nephrolithiasis
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