Article
[A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis].
Orvosi hetilap - 21 May 2023
Jakab Dániel, Maróti Zoltán, Iványi Béla, Bereczki Csaba, Kalmár Tibor
Abstract excerpt
Dent's disease is a proximal tubulopathy with heterogeneous genetical background. The typical clinical finding is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and progressive chronic kidney failure. The underlying cause of the disease is the genetic defect (most commonly CLCN5 mutation) of the receptor-mediated endocytosis in the structure of proximal...
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