How should patients with cystine stone disease be evaluated and treated in the twenty-first century?

Cystinuria continues to be one of the most challenging stone diseases. During the latest decades our knowledge of the molecular basis of cystinuria has expanded. Today 160 different mutations in the SLC3A1 gene and 116 in the SLC7A9 gene are listed. The full implications of type A, B or AB status are not yet fully understood but may have implications for prognosis, management and treatment. Despite better understanding of the molecular basis of cystinuria the principles of recurrence prevention have remained essentially the same through decades. No curative treatment of cystinuria exists, and patients will have a life long risk of stone formation, repeated surgery, impaired renal function and quality of life. Therapy to reduce stone formation is directed towards lowering urine cystine concentration and increasing cystine solubility. Different molecules that could play a role in promoting nucleation and have a modulating effect on cystine solubility may represent new targets for cystinuria research. Investigation of newer thiol-containing drugs with fewer adverse effects is also warranted. Determining cystine capacity may be an effective tool to monitor the individual patient's response. Compliance in cystinuric patients concerning both dietary and pharmacological intervention is poor. Frequent clinical follow-up visits in dedicated centres seem to improve compliance. Cystinuric patients should be managed in dedicated centres offering the complete range of minimal invasive treatment modalities, enabling a personalized treatment approach in order to reduce risk and morbidity of multiple procedures.

Internal Structure of Kidney Calculi as a Predictor for Shockwave Lithotripsy Success.

INTRODUCTION: The internal structure of renal calculi can be determined on CT using bone windows and may be classified as homogeneous or inhomogeneous with void regions. In vitro studies have shown homogeneous stones to be less responsive to extracorporeal shockwave lithotripsy (SWL). The objective was to evaluate whether the internal morphology of calculi defined by CT bone window influences SWL outcome in vivo. MATERIALS AND METHODS: One hundred eleven patients with solitary renal calculi treated with SWL were included. Treatment data were registered prospectively and follow-up data were collected retrospectively. All patients had noncontrast computed tomography (NCCT) performed before SWL and at 3-month follow-up. The stones were categorized as homogeneous or inhomogeneous. At follow-up, the patient's stone status was registered. Stone-free status was defined as no evidence of calculi on NCCT. Treatment was considered successful if the patient was either stone free or had clinically insignificant residual fragments. RESULTS: Using simple logistic regression, the odds for being stone free 3 months post-SWL were significantly reduced in the patients with inhomogeneous stones compared with patients with homogeneous stones (odds ratio 0.43 [95% confidence interval 0.20, 0.92; p < 0.05]). However, when adjusting for stone size by multiple logistic regression, including stone size (area) as a covariate, this difference became insignificant. CONCLUSION: The internal structure of kidney stones did not predict the outcome of SWL in vivo.