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This document is a letter published in the journal Clinical Drug Investigation. It presents the results of a pilot study on the impact of long-term treatment with tolvaptan on the quality of life (QoL) of patients with autosomal dominant polycystic kidney disease (ADPKD). The study used the SF-36 questionnaire to assess various aspects of QoL. The results suggest that tolvaptan treatment may improve the perception of physical limitations but worsen vitality and mental health. However, the small sample size and retrospective nature of the study limit the conclusions that can be drawn. Further research is needed to explore the impact of tolvaptan on QoL in ADPKD patients. [Extracted from the article]

Dent’s disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without family history. A possible approach to this problem is to search for CLCN5 mutations in patients who may have a high prevalence of mutations: end-stage renal disease (ESRD) patients with previous calcium, struvite, or radio-opaque (CSR) stones. We looked for CLCN5 mutations in 25 males with ESRD–CSR stones selected from all of the patients (1,901 individuals, of which 1,179 were males) of 15 dialysis units in the Veneto region. One DD patient had a new DD mutation (1070 G>T) in exon 7. The new polymorphism IVS11–67 C>T was detected in intron 11 in one patient and one control. We also found 28 females with ESRD and stone history, and seven more males with ESRD and non-CSR stones. The prevalence of stone formers among dialysis patients in our region was 3.2%, much lower than the prevalence observed in older studies. Struvite stones continue to play a major role in causing stone-associated ESRD . [ABSTRACT FROM AUTHOR]