STORZ MEDICAL – Literature Databases
STORZ MEDICAL – Literature Databases
Literature Databases
Literature Databases

Lucía Diéguez et al., 2024: Dent's Disease: A Cause of Monogenic Kidney Stones and Nephrocalcinosis

Lucía Diéguez 1 , Melissa Pilco 2 , Sofía Butori 1 , Andrés Kanashiro 1 , Josep Balaña 1 , Esteban Emiliani 1 , Bhaskar K Somani 3 , Oriol Angerri 1
1Department of Urology, Fundación Puigvert, 08025 Barcelona, Spain.
2Department of Nephrology, Fundación Puigvert, 08025 Barcelona, Spain.
3Department of Urology, University Hospital Southampton NHS Trust, Southampton SO16 2HA, UK.

Abstract

Kidney stones are becoming increasingly common, affecting up to 10% of adults. A small percentage are of monogenic origin, such as Dent's disease (DD). DD is a syndrome that causes low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis. It is X-linked, and most patients have mutations in the CLCN5 gene. We performed a review of the literature and evaluated the case series (n = 6) of a single center in Spain, reviewing the natural evolution of kidney stones, clinical implications, laboratory analyses, radiological development, and treatment. All patients had a genetically confirmed diagnosis, with the CLCN5 mutation being the most frequent (66%). All patients had proteinuria and albuminuria, while only two and three presented hypercalciuria and phosphate abnormalities, respectively. Only one patient did not develop lithiasis, with most (60%) requiring extracorporeal shock wave lithotripsy or surgery during follow-up. Most of the patients are under nephrological follow-up, and two have either received a renal transplant or are awaiting one. The management of these patients is similar to that with lithiasis of non-monogenic origin, with the difference that early genetic diagnosis can help avoid unnecessary treatments, genetic counseling can be provided, and some monogenic kidney stones may benefit from targeted treatments.

J Pers Med. 2024 Jun 11;14(6):623. doi: 10.3390/jpm14060623. PMID: 38929844 FREE ARTICLE

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Comments 1

Peter Alken on Tuesday, 01 October 2024 11:00

Three of the six cases with this rare form of stone disease were treated with EWSL.

Peter Alken

Three of the six cases with this rare form of stone disease were treated with EWSL. Peter Alken
Thursday, 05 December 2024