Dent's Disease : A Cause of Monogenic Kidney Stones and Nephrocalcinosis
Diéguez, Lucía (Fundació Puigvert)
Pilco-Teran, Melissa (Fundació Puigvert)
Butori, Sofía (Fundació Puigvert)
Kanashiro, Andrés (Fundació Puigvert)
Balañà, Josep (Fundació Puigvert)
Emiliani, Esteban (Institut de Recerca Sant Pau)
Somani, Bhaskar K. (University Hospital Southampton NHS Foundation Trust (Regne Unit))
Angerri Feu, Oriol (Institut de Recerca Sant Pau)
Universitat Autònoma de Barcelona

Date:	2024
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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Dent's disease ; Kidney stones ; Lithiasis ; Monogenic
Published in:	Journal of personalized medicine, Vol. 14 Núm. 6 (june 2024) , p. 623, ISSN 2075-4426

DOI: 10.3390/jpm14060623
PMID: 38929844

9 p, 1.9 MB

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