Can cystinuria decrease the effectiveness of RIRS with high-power ho:yag laser in children? Outcomes from a tertiary endourology referral center.

Cystinuria, which is the cause of cystine urolithiasis, accounts for 2-6% of all urinary stones in children, has a low prevalence with a high recurrence rate, making this metabolic disorder a therapeutic challenge in pediatric population. The aim of this work is evaluate the efficacy and safety of retrograde intra-renal surgery (RIRS) in pediatric patients with cystinuria and kidney stones smaller than 2 cm. Prospective study of 64 stones treated in 22 retrograde intra-renal surgeries (RIRS) in cystinuric pediatric patients with renal or proximal ureteral stones less than 2 cm. Average age of 9.5 years. The following data were analyzed: demographics, stone characteristics and surgical data with intra- and postoperative complications. Location of the stones was 68.7% in the calyces, 20.3% in the renal pelvis, and 9.3% in the ureteropelvic junction; 41% of cases had multiple locations. The average cystinuria level before the procedure was 825 mg/dL. The anatomy of 73% of the interventions increased the difficulty of flexible ureteroscopy and decreased stone free rates, because distorted renal anatomy was present: sclerosis of the pelvis or infundibulum, abnormal calyceal dilations, or excluded calyces. Intraoperative complications occurred in 18.2% of the procedures. Reno-vesical ultrasound was performed in all patients in the first postoperative month, with an SFR of 59%. Cystinuric patients are a challenge for pediatric urologists, decreasing the effectiveness of RIRS. However, it could be better treatment than SWL and with fewer complications than PCNL in the pediatric population with this disease.

Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study.

OBJECTIVE: Although cystinuria is rare, its clinical manifestations are life-long. Little is known about healthcare utilization in this population. STUDY DESIGN: Through billing records and chart review, we identified pediatric patients with cystinuria treated at our institution. Variables included demographics, gender, race, comorbidities, location of presentation, presenting symptoms, initial laboratory data, and stone characteristics. Outcomes included the number and type of imaging tests and procedures performed. Descriptive statistics were performed. Median annual frequencies of procedures and imaging were calculated. RESULTS: Twenty-three patients who presented between 1995 and 2011 were identified. The median age at presentation was 12 years, 48% of our patients were male, and 91% were Caucasian. Median follow-up was 4.6 years. Over half were diagnosed in clinic (13/23), while 30% (7/23) presented to the ED. Pain was the most common presenting symptom (13/23), followed by nausea/vomiting (6/23), gross hematuria (5/23), and fevers (5/23). Only one patient presented with acute renal failure. Five patients were discovered by sibling screening. The median number of stones at presentation was two and median size of the largest stone was 9 mm, with three staghorn calculi. During follow-up, a total of 110 stone procedures were performed in 15 patients. Five patients underwent 13 PCNLs, 11 patients underwent 44 ureteroscopy procedures, and nine underwent open or robotic surgery, including one nephrectomy. Among patients identified by sibling screening, most (4/5) were managed with medical therapy alone. A total of 390 imaging procedures were performed. Radiation-associated imaging comprised half of all imaging tests. DISCUSSION: The high rates of imaging and surgical utilization among pediatric cystinuria patients reflect the morbidity of this condition and the need for preventative management. By practicing the ALARA principle during urologic procedures, urologists can reduce radiation exposure. Multiple procedures are often required to render patients stone-free. URS/LL and PCNL are likely to be more effective than ESWL. In complex cases, robotic-assist lithotomy provides the advantage of a minimally invasive approach. Both sibling screening and transitional care represent long-term strategies with the potential to reduce life-long morbidity. The limitations of this study include its small sample size, retrospective nature, and single-center experience. CONCLUSIONS: Our study demonstrates that the clinical impact of disease among pediatric patients presenting with cystinuria at our institution is considerable, with most requiring surgery. Our population also generates heavy utilization of diagnostic imaging. Given the lifelong nature of this disease, research on improved preventive therapies is urgently needed.

Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis.

UNLABELLED: A significant study from the USA compares cystine stone formers and routine stone formers; the former group had a higher requirement for therapeutic procedures, but this was less if they took chelating agents, although remaining higher than in the latter group. Other interesting findings are also presented. OBJECTIVE: First, to compare two types of stone formers (SF), those with cystinuria and those without, for effects of treatments for stones, as cystinuria leads to recurrent stones that are difficult to fragment with shock-wave lithotripsy, and there is disagreement about the efficacy of current treatments. Second, to compare these two groups with respect to blood pressure (BP) and renal function, as cystine stones may be associated with more morbidity than are routine stones. PATIENTS AND METHODS: Fifty-two cystinuric patients (cystine SF) entering our programme since 1970 were compared with 3215 SF without cystinuria (routine SF), of whom 114 had a single functioning kidney (routine SF + nephrectomy). All patients had three 24-h urine and blood samples taken to determine the risk of stones before their first clinic visit; these studies were repeated after therapy was initiated, and at regular intervals to monitor therapy. Cystine was measured in the urine samples of the cystine SF. All stone-related procedures were recorded, and BP measured at clinic visits. Creatinine clearances (CCr) were calculated from each set of serum and urine values. Cystine supersaturation (SS) was directly measured in 16 urine samples collected before treatment and 13 afterward. RESULTS: Patients were treated with increased fluid intake, potassium alkali and chelating agents such as alpha-mercapto-propionyl-glycine, as needed. The mean (sd) CCr, corrected for age and gender, was significantly lower at entry in cystine SF than in routine SF, at 91 (6) vs 160 (1) L/day, respectively (P < 0.001), and remained so at the last CCr. Neither systolic nor diastolic BP, similarly corrected, differed between the groups, but cystine SF had significantly more procedures, corrected for time at risk, before treatment than did routine SF, at 4.0 (0.4) vs 1.86 (0.06), respectively (P < 0.001); time-adjusted procedures decreased significantly in both groups during treatment, but remained higher in cystine SF, at 0.88 (0.14) vs 0.23 (0.02), respectively, (P < 0.001). Urine volume and pH were significantly higher in cystine SF than in routine SF, both before and during treatment. Cystine SS decreased during treatment, consistent with the increase in urine volume and decline in procedure rates during treatment. CONCLUSION: Cystine SF have significantly higher procedure rates than routine SF, but procedure rates decline during therapy, although they remain higher than in routine SF. The lower CCr in cystinurics suggests that treatment to prevent stone recurrence and the need for procedures is particularly important, and emphasizes the need for a close follow-up. Use of cystine SS measurements may allow closer monitoring of the effect of treatment on the risk of stone recurrence.

Urological intervention in patients with cystinuria is decreased with medical compliance.

PURPOSE: Theoretically patients with cystinuria compliant with medical treatment should undergo fewer surgical procedures than those noncompliant with treatment. We describe a single urologist's experience (SYN) with the effects of medical management on the number of surgical interventions required in patients with cystinuria treated at our metabolic stone clinic (MSC). MATERIALS AND METHODS: The records of 20 patients with cystine stones seen at our MSC (mean followup of 42.5 months) were evaluated. The number of surgical interventions (endourology or open surgery) during followup were recorded as surgical events. Patients were placed into a compliant or noncompliant category based on their attendance record at scheduled appointments at our MSC and whether they adhered to the prescribed medical regimen by report. Patients were classified in an active disease category if recent imaging revealed a clinically significant stone burden greater than 3 mm. Statistical analysis of the number of surgical events for stone-free patients compliant with treatment versus noncompliant was conducted (Student's t test). RESULTS: Of the 20 patients 11 were categorized as compliant and 9 as noncompliant. Of the compliant patients the average number of surgical events was 1.0 per patient versus 4.0 in the noncompliant group (p <0.05). Of the 11 compliant patients 8 (73%) were stone-free compared to 3 (33%) in the noncompliant group. CONCLUSIONS: The majority of our patients with cystinuria compliant with treatment underwent a significantly fewer number of surgical procedures per year than those noncompliant with treatment. Active medical management in patients with cystinuria compliant with treatment decreases the incidence of surgical interventions.

Cystine urinary lithiasis in Thailand: a report of five cases.

Cystine urinary stone is an autosomal recessive hereditary disease, frequently recurring and resisting fragmentation by Shockwave lithotripsy. As cases have never been reported before in Thailand, five cases of renal cystine stones at Ramathibodi Hospital were reported. Two were in the same family. In all cases the stones were removed by open surgery or percutaneous nephrolithotomy. Postoperatively, all the stones were analyzed by infrared spectroscopy for cystine. In two cases, cystine stones were also identified by scanning electron microscopy. Urine was analyzed for cystine by sodium cyanide-nitroprusside test, its concentration by spectrophotometry and cystine crystals were identified by the new crystal induction technique under light microscopy. By high-performance liquid chromatography (HPLC) test, urinary dibasic amino acids (ornithine, lysine, arginine) in these cases were also found to be significantly elevated. Clinical findings, diagnosis, treatment and prevention of cystine stones are reviewed.

Paciente joven afecto de cistinuria y litiasis renal de cistina. Aspectos clínicos y terapéuticos. A propósito de un caso / Young patient with cystinuria and renal lithiasis of cistine. Clinical and therapeutic aspects. About a clinical case

Un enfoque terapéutico adecuado e individualizado es la base fundamental para prevenir la recidiva litiásica en la cistnuria. Al ser un tratamiento de por vida existe una elevada falta de adherencia al mismo, por lo que se requiere de un seguimiento periódico por parte del médico. A pesar de todas las medidas terapéuticas y normas de conducta empleadas, en algunos casos la recidiva litiásica puede persistir (AU)

[Cystinic lithiasis. Current aspects of the urologic treatment]. / La lithiase cystinique. Aspects actuels du traitement urologique.

On the basis of a series of 9 patients (12 renal units) gathered over 19 years, the authors analyze the current possibilities of treatment of cystine lithiasis. They first describe the characteristics of this litiasis, which is rare but serious, being naturally prone to recurrence because it is caused by a genetic defect. The development of extracorporeal lithotripsy raised great hopes for the treatment of this lithiasis, but it was soon realized that cystine strones were hard to break. However, even the mere fragmentation of the stones improves the dissolving action of the various drugs proposed to modify the pH of urine. The authors consider that open surgery by means of posterior vertical lumbar section still is indicated for larger stones, and percutaneous nephrolithotomy seems to be a very useful technique, either exclusively or as a complement of extracorporeal lithotrity.

Cystinuria--an experience in management over 18 years.

Data on 23 patients with cystinuria are presented. These have been analysed for age, sex and the incidence of surgical procedure. Urinary amino acid data have been analysed to confirm homozygosity which was achieved in all but one of the cases. Guidelines are presented concerning surgical and medical management of the patients, and some results of percutaneous lithotripsy are presented.

Percutaneous catheter dissolution of cystine calculi.

In 11 kidneys with presumed cystine stones that were symptomatic and obstructing, percutaneous nephrostomy and stone lavage with either acetylcysteine-bicarbonate solution or tromethamine-E were performed. There were 7 complete stone dissolutions: 2 of 6 attempts with acetylcysteine-bicarbonate alone, 3 of 5 with tromethamine-E, 1 partial with acetylcysteine-bicarbonate, which was completed with tromethamine-E, and 1 proved mixed stone (cystine and calcium phosphate) that required acetylcysteine-bicarbonate and hemiacidrin. In 1 case tromethamine-E irrigation was 97 per cent complete but a few tiny caliceal fragments remained. There were 3 failures of chemolysis: 2 pure cystine stones (1 each acetylcysteine-bicarbonate and tromethamine-E) and 1 mixed calculus with a surface shell of calcium oxalate. Irrigation time was 6 to 42 days for the 7 unoperated kidneys. Tromethamine-E appears to be a more effective agent for cystine stone dissolution. Percutaneous nephrostomy and dissolution are an alternative to an operation in patients with cystine calculous disease.

Poor diagnosis of cystinuria in New South Wales.

The case histories of 33 stone-forming cystinurics were analysed with respected to the time taken for the diagnosis of cystinuria to be made. Stone analysis showed that 17 patients were diagnosed at the time of first stone formation, but the other 16 patients were not diagnosed until they had suffered repeated episodes of calculi. There were 25 episodes of renal colic in 14 patients before any stone formation, and there was no case of cystinuria diagnosed as the result of a search for the cause of the renal colic.

Cystinuria: a surgical challenge.

A case is reported in which cystinuria was unresponsive to medical treatment. Replacement of both ureters with small intestine gave a satisfactory result.