In the past decade, there has been remarkable progress in understanding of the roles of Cl−
channels in the development of human diseases. Genetic studies in humans have identified …

Dent's disease 1 (OMIM 300009) is an X-linked proximal tubulopathy [1] first described in
1964 [2], with Fanconi syndrome, a consistent renal abnormality, and low-molecular-weight …

Background: Dent disease is an X-linked tubulopathy frequently caused by mutations
affecting the voltage-gated chloride channel and chloride/proton antiporter ClC-5. A recent …

Genetic inactivation of ClC-5, a voltage-gated chloride channel prominently expressed in the
kidney, leads to proteinuria because of defective apical endocytosis in proximal tubular …

The constitutive reuptake of albumin from the glomerular filtrate by receptor-mediated
endocytosis is a key function of the renal proximal tubules. Both the Cl–channel ClC-5 and …

Hypercalciuria is regarded as a characteristic symptom of Dent disease, an X-linked
recessive tubulopathy characterized by low molecular weight (LMW) proteinuria …

ClC-5 is a chloride (Cl−) channel expressed in renal tubules and is critical for normal tubular
function. Loss of function nonsense or missense mutations in ClC-5 are associated with …

Mutations in CLCN5, which encodes the voltage-dependent Cl−/H+ antiporter, CLC-5,
cause Dent's disease. This disorder is characterized by low molecularweight proteinuria …

Chloride channels are expressed in almost all cell membranes and are potentially involved
in a wide variety of functions. The kidney expresses 8 of the 9 chloride channels of the ClC …

Renal Fanconi syndrome occurs in about 1–5% of all children treated with Ifosfamide (Ifo)
and impairment of renal phosphate reabsorption in about 20–30% of them …