2025/01/09 by Arend Bökenkamp, Gema Ariceta, Detlef Böckenhauer +9 · 2 voices
Biochemistry, Genetics and Molecular Biology · Medicine · #Biomedical Research and Pathophysiology #Glycogen Storage Diseases and Myoclonus #Metabolism and Genetic Disorders
paper · pdf · doi:10.1093/ndt/gfaf003
openalex publication_date 2025/01/09 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/03
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.