Intractable Rare Dis Res. 2017;6(1):41-45. (DOI: 10.5582/irdr.2016.01088)

Diagnosis and treatment of Dent disease in 10 Chinese boys.

He GH, Zhang HW, Wang F, Liu XY, Xiao HJ, Yao Y


Dent disease is a rare X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life. Dent disease is clinically characterized by the presence of low molecular weight proteinuria (LMWP), hypercalciuria, medullary nephrocalcinosis, nephrolithiasis, and progressive renal failure. The clinical features, diagnosis, and treatment of Dent disease were examined in 10 Chinese boys. All 10 childhood cases of Dent disease in China presented with tubular proteinuria in the nephrotic range and hypercalciuria. The ratio of α1-microglobulinuria to microalbuminuria, if close to or above 1, can be used as a diagnostic criterion for tubuloproteinuria. Lotensin was ineffective at treating proteinuria while dihydrochlorothiazide reduced urine calcium excretion.

KEYWORDS: Dent disease, diagnosis, treatment, childhood, China

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