Dent disease: clinical practice recommendations

Abstract

Dent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the third and fifth decades of life in 30%-80% of affected males. The disease is most often associated with various manifestations of proximal tubular dysfunction. Affected individuals may present nephrotic-range proteinuria which may be misinterpreted and cause diagnostic delay. Due to its rarity, there is limited evidence to guide diagnosis and management. These clinical practice recommendations summarize the current knowledge on Dent disease and provide guidance for diagnosis and management. The recommendations are based on a systematic search of the literature and were endorsed by a Delphi procedure among stakeholders in the field as well as the respective ERA and ESPN working groups.

Keywords: guidelines; nephrolithiasis; proteinuria; proximal tubule; systematic review.

Figure 1:

Flow diagram for the diagnosis of Dent disease. LMWP, low-molecular-weight proteinuria.

Figure 2:

Time course of disease manifestations (schematic presentation illustrating changes in prevalence/severity over time as described in the text).