A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis

• Published in: Orvosi hetilap Vol. 164; no. 20; p. 788
• Main Authors: Jakab, Dániel, Maróti, Zoltán, Iványi, Béla, Bereczki, Csaba, Kalmár, Tibor
• Format: Journal Article
• Language: English; Hungarian
• Published: Hungary 21.05.2023
• Subjects: Dent Disease - complications; Dent Disease - diagnosis; Dent Disease - genetics; Humans; Kidney; Kidney Calculi - genetics; Mutation; Proteinuria; Renal Insufficiency; Sclerosis; tubulopathia; glomerularis sclerosis; CLCN5 gene; Dent-betegség; FSGS; Dent’s disease; glomerular sclerosis; tubulopathy; CLCN5-gén
• ISSN: 1788-6120
• DOI: 10.1556/650.2023.32787

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 tubules. The typical fenotype may be composed of extrarenal symptoms. In the event of clinical suspicion, Dent's disease is only verifiable by genetic testing without the necessity of any kidney biopsy. The clinical case can be associated with nephrotic-range proteinuria or kidney failure as an indication of kidney biopsy. The number of articles available at scientific literatures on Dent's disease with the inclusion of renal histology is very slight. According to the pathophysiology of the highlighted Dent's disease and additionally to the expected tubular pathology, global or focal segmental glomerular sclerosis may apply for the majority of cases. Orv Hetil. 2023; 164(20): 788-791.