Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance.
Evidence for genetic heterogeneity in Dent's disease. Kidney Int 2004;65:1615-1620.
Dent's disease: Chloride-proton exchange controls proximal tubule endocytosis.
Dent's disease. Orphanet Journal of Rare Diseases, 5, 28.
Responsiveness of hypercalciuria to thiazide in Dent's disease. Journal of the American Society of Nephrology, 13, 2938-2944.
Dent's disease is a rare recessive X-linked renal tubular disorder characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, hypophosphatemia, rickets and slowly progressive renal failure.
Because a subsequent follow-up within a year revealed slightly increased 24-h urinary calcium excretion, 4.68 and 4.95 mg/kg, a suspicion of Dent's disease was made.
Dent's disease is rare recessive X-linked renal tubular disorder manifesting by proximal tubular dysfunction of different grades, nephrolithiasis, nephrocalcinosis, rickets and slowly progressive renal failure.
Dent's disease is a proximal tubulus disease which is transmitted by x-linked recessive inheritance and which is characterized with low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis (8).
In this article, a male patient who was found have nephrolithiasis on ultrasonography (USG) performed because of urinary tract infection and was diagnosed with Dent's disease was presented to emphasize the importance of considering Dent's disease which is a rare disease in the differential diagnosis of nephrolithiasis.
Dent's disease was considered in the patient with the present findings.