A young man presenting with recurrent nephrolithiasis

In summary, this young man presented with renal impairment, low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and multiple renal cysts. Furthermore, the persistently elevated serum alkaline phosphatase level suggested abnormal bone metabolism. This phenotype was consistent with Dent’s disease. The diagnosis was confirmed by molecular analysis, revealing a mutation in the CLCN5 gene. Besides displaying the classical diagnostic criteria of Dent’s disease, our patient presented with multiple renal cysts. Although multiple renal cysts have been reported in Dent’s disease, they are not commonly used as a diagnostic feature. Other observations are needed to explore the possible correlation between the nature of the mutation and the cystic phenotype of Dent’s disease


AUTORE: Rachel Hellemans, Gert A. Verpooten and Jean-Louis Bosmans