Abstract
Cystinuria comprises less than 1% of kidney stones and is associated with impaired health-related quality of life (HRQOL). Limited evidence is available regarding HRQOL of patients with cystinuria treated with tiopronin (Thiola®). The objective of this study was to assess the HRQOL of patients with or without tiopronin treatment. For this cross-sectional survey, patients on tiopronin treatment were recruited through the “Thiola® Total Care Hub,” a specialty pharmacy used to dispense tiopronin, and compared with patients not taking tiopronin (non-tiopronin group) who were identified from the Cystinuria Contact Registry at New York University School of Medicine. Consented patients responded to a survey that included questions about their experiences with kidney stones, the Wisconsin stone quality of life (WISQOL) (disease-specific) questionnaire, and the short form-36 version 2 (SF-36v2) (generic) HRQOL questionnaire. Statistical analyses included independent-sample t tests, one-way analysis of variance (ANOVA), and correlations. The survey was completed by 312 patients: 267 in the tiopronin group (144 male, 123 female; mean 49 years) and 45 in the non-tiopronin group (10 male, 35 female; mean 48 years). Both groups utilized pain medications similarly (24% overall). Patients on tiopronin had a significantly better HRQOL than patients not on tiopronin for all WISQOL domains (p < 0.001) and all but the physical functioning SF-36v2 domain (p < 0.001), where both groups approached the US normative mean, when controlling for the last stone event. Compared with patients in the non-tiopronin group, patients taking tiopronin reported better HRQOL on both the WISQOL and SF-36v2.
Highlights
Cystinuria is a rare genetic disorder characterized by an impaired transport of cystine and dibasic amino acids across the luminal membrane of the renal proximal tubule and small intestine
This study was a cross-sectional survey designed to assess health-related quality of life (HRQOL) in cystinuria patients enrolled in the Cystinuria Contact Registry at New York University (NYU) School of Medicine and in cystinuria patients included in the “Thiola® Total Care Hub,” a specialty pharmacy used to dispense tiopronin; surveys were mailed out to members of both registries
A total of 312 participants were enrolled in the study, 267 (85.6%) on tiopronin treatment and 45 (14.4%) not on tiopronin treatment (Table 1)
Summary
Cystinuria is a rare genetic disorder characterized by an impaired transport of cystine and dibasic amino acids across the luminal membrane of the renal proximal tubule and small intestine. Increased urinary cystine concentrations lead to formation of recurrent renal stones [1]. More than 80% of cystinuria patients will experience their first symptomatic stone in the first 2 decades of life and often have recurrent stones every 3–5 years or more frequently [3,. Possible complications of cystinuria include renal colic, hematuria, obstruction, and infections of the urinary tract [3]. Urological intervention is often required for recurrent and larger stone formation episodes. Recurrent episodes have a significant impact on patients’ daily and professional activities, and on emotional and mental health [5]. Patients with recurrent stones have increased stress and depression [6,7,8]
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