Multimodal Treatments of Cystine Stones: An Observational, Retrospective Single-Center Analysis of 14 Cases

Abstract

PurposeTo document the experiences of a single institution in evaluating the clinical courses and treatment outcomes of patients with cystine stones.Materials and MethodsThe clinical data of 14 patients with cystine stones who were treated at our institution from March 1994 to July 2012 were reviewed. These data included age at first visit, gender, family history, body mass index, presence of a single kidney, stone locations, stone burden, routine urinalysis, and culture. In addition, we also analyzed data on surgery, shock wave lithotripsy, medical treatment, stone recurrence or regrowth, and overall treatment success rates.ResultsThe mean age of our patients at their first visit was 19.6±5.0 years, and eight patients were males. The median stone burden and mean urine pH before each surgery were 6.5 cm2 and 6.5±0.9, respectively. Two patients had a family history of cystine stones. Patients underwent surgery an average of 2.7 times. The median interval between surgeries was 27.3 months, and 1 open surgery, 12 percutaneous nephrolithotomies, and 25 ureterorenoscopies were performed. Potassium citrate or sodium bicarbonate was used in nine cases. D-Penicillamine was continuously used in three patients. Patients had an average incidence of 3.2 recurrences or regrowth of stones during the median follow-up period of 60.5 months.ConclusionsPatients with cystine stones have high recurrence or regrowth rates and relatively large stone burdens. Adequate treatment schedules must therefore be established in these cases to prevent possible deterioration of renal function.

Clinical Outcomes for Cystinuria Patients with Unilateral Versus Bilateral Cystine Stone Disease

“…Similarly, Varda and colleagues reported a pediatric cystinuria series of 23 patients with long-term follow-up indicating a median surgery number of 6 with a median number of 1.0 surgery per year. 10 Smaller series from Korea and Japan, however, have demonstrated a much lower average surgical burden; 2.7 surgeries per lifetime during a mean follow-up period of 5 years in 14 patients, 11 and <0.2 stone events yearly from a study in 31 patients with a mean follow-up period of 7.5 years. 12 The relatively lower surgery or stone event number from these Asian studies may be explained by differences in disease severity, urologic practice patterns, and definitions of stone-related surgery.…”

Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria

“…More than 50% of patients with cystinuria suffer from stone formation throughout their lifetime, with variable onset ages as well as a high rate of recurrence of up to 60% (5). Furthermore, since stones are likely to be formed bilaterally in more than three-quarters of cystinuric patients (4), they are at high risk of renal dysfunction and consequent poor quality of life (6). …”

“…There have been several clinical case reports and studies of Korean patients with cystinuria (691011121314). However, only 2 case reports published include genetic studies: one was that of a 13-year-old boy with a single heterozygous SLC7A9 mutation (c.517G>A, p.G173R) (11), and the other was of an 8-month-old girl with a homozygous SLC3A1 mutation (c.1820delT, p.L607fs) (10).…”

Journey of a cystinuric patient with a long-term follow-up from a medical stone clinic: necessity to be SaFER (stone and fragments entirely removed)

“…The medical compliance and management in their series of 30 cystinuric patients was shown to be poor with patients experiencing multiple stone episodes requiring multiple interventions. In another Korean study of 14 patients, a multimodal treatment is recommended for a SaFER status [ 16 ]. An incidence of recurrence or growth of 3.2/patients was seen over a median follow-up of 5 years in their series despite medical intervention alongside.…”

“…However, with an early diagnosis, medical management and better compliance these patients have reduced episodes of surgical intervention and preserve their renal function in the long term. However, our sample size is small in keeping with the disease prevalence and this has been recognised in other studies [15][16][17]. As it is a retrospective medical database study and old surgical notes had been archived, full details on intervention type was not available for all patients.…”