VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.

VPS13D is a recently described gene. Worldwide, only 15 families with 23 affected individuals have been reported with a VPS13D-based disease. Mutated VPS13D causes a complex phenotype with a hyperkinetic movement disorder and ataxia, especially in childhood onset disease. The clinical phenotype of the rare adult-onset cases consists of cerebellar ataxia and/or spastic paraplegia. Here, we report the extensive clinical, laboratory and genetic findings of two offspring from consanguineous parents, with ages of disease onset at 57 and 49 with VPS13D-based ataxia. Although conventional magnetic resonance imaging showed mild cerebellar and cerebral atrophy, diffusion tensor imaging, applied for the first time for VPS13D patients, revealed prominent atrophy in U fibers and cerebellopontine tracts. Whole exome sequencing analysis revealed a biallelic Ala4210Val mutation in the VPS13D, reported only once in the literature. Complementary screening of our in-house database consisting of 295 ataxia and hereditary spastic paraplegia patients revealed two further ataxia patients with novel VPS13D variants. Screening the control cohort for VPS13D variants revealed one asymptomatic individual carrying a novel VPS13D variant. In this study, the phenotypic spectrum of VPS13D-based disease is expanded with the description of pre-senile onset predominant ataxia. Further, with the additional novel mutations described, the report is expected to contribute to the understanding of the yet elusive phenotype-genotype correlations in the rare VPS13D-based movement disorder.

A new simple scoring system for prediction of success and complication rates in pediatric percutaneous nephrolithotomy: stone-kidney size score.

INTRODUCTION: Nomograms and scoring systems designed for predicting the success of percutaneous nephrolithotomy (PCNL) in adults are currently available. However, no scoring system currently exists primarily for predicting PCNL success in children. OBJECTIVES: The objective of this study was to develop a scoring system to predict the stone-free and complication rates by using pre-operative parameters. STUDY DESIGN: A retrospective analysis was conducted on data from 434 renal units belonging to patients with kidney stones who underwent PCNL between 1997 and 2017. Renal stone index was calculated by dividing the length of the stone along its longest axis by the length of the kidney along its longest axis. Guy's Stone scores, S.T.O.N.E scores, and CROES scores for adults were calculated by filling in the variables for each patient. Factors that predicted success and complications were examined by univariate and multivariate analyses. RESULTS: Mean age was 8.3 (1-16) years, and male to female ratio was 236:165. When stone-free patients were compared with other patients, there was a statistically significant difference in the average stone/kidney index (SKI) value (stone size/kidney size on longitudinal axis) (0.266 vs 0.339, P < 0.001). In multivariate analysis, factors that predicted success were the SKI and number of stones. A newly developed scoring scale, the stone-kidney score (SKS), combined scores for both the SKI and the number of stones into one value. A minimum total SKS score was 2, and a maximum total SKS score was 4. Success rates for SKS scores of 2, 3, and 4 were 86.4%, 73%, and 62.9% (P < 0.001), respectively. Complication rates for SKS scores of 2, 3, and 4 were 13%, 22.1%, and 23.8%, respectively. DISCUSSION: The new scoring system has only two variables (number of stones and SKI) and three risk groups. An SKS score is easier to use and calculate. An SKI value can be simply calculated on any imaging modality by dividing the length of the stone along its longest axis by the length of the kidney along its longest axis. As in the new scoring system, the SKI value combined with the number of stones is useful in predicting stone-free rates after PCNL. CONCLUSION: When evaluated together, the SKI and presence of multiple stones may predict stone-free rates pre-operatively. The SKS is an individual-specific method that can be easily used in pediatric clinical practice. Further studies are required to develop and standardize this method.

Surgical outcome of patients with vesicoureteral reflux from a single institution in reference to the ESPU guidelines: a retrospective analysis.

INTRODUCTION: Vesicoureteral reflux (VUR) is an anatomic or functional disorder, and it is a condition associated with renal scarring, hypertension, and end-stage renal disease. Renal damage can be prevented by appropriate medical and surgical intervention for selected patients. OBJECTIVES: The objective of this study was to retrospectively analyze the surgically treated patient group of this study in reference to the risk analysis criteria used in European Association of Urology (EAU), European Society for Paediatric Urology (ESPU) guidelines to see the outcome of the study management protocol within the last 15 years in respect to this risk analysis. STUDY DESIGN: A total of 686 patients who were operated upon in a single institution for VUR between 1997 and 2016 were retrospectively analyzed. According to the criteria in EAU/ESPU guidelines, the patients were classified into three groups: low, medium, and high risk. Risk factors were compared between the groups. RESULTS: The patient numbers for low, medium, and high risk were 92 (13.4%), 485 (70.7%), and 109 (15.9%), respectively. In the high-risk group, surgeons tended to do more ureteroneocystostomy (UNC) (82.6%), whereas in the low-risk group, surgeons tended to do more subureteric injection (STING) (76.1%). The success rates for STING and UNC were found to be 75% and 93%, respectively. Although there was a difference in success rates among patients treated with STING or UNC, this difference was not statistically significant in success rates regarding risk groups for patients treated with STING or UNC. DISCUSSION: The most recent guideline was that which was published by the EAU/ESPU organization in 2012. This guideline is established based on the risk analysis. The analysis revealed that patients in the low-risk group tended to undergo endoscopic surgery treatment method, whereas patients in the high-risk group tended to undergo open surgery. Therefore, the study management over the last 10 years has been mainly in line with the current recommendations. CONCLUSION: The analysis shows that when the patients are classified according to the EAU/ESPU risk classification, surgeons tended to perform more endoscopic and more open surgery for the low- and high-risk groups, respectively. Although each surgical modality had similar success rates in each group, open surgical results were overall much higher than those of endoscopic surgery in each group. This was a specifically important finding in high-risk group where the endoscopically treated group of patients was small in number, and the need for a definitive correction is essential in this group because of increased risk of renal injury.

Postvoidal residual urine is the most significant non-invasive diagnostic test to predict the treatment outcome in children with non-neurogenic lower urinary tract dysfunction.

INTRODUCTION: Uroflowmetry (UF) alone is often inadequate or unreliable to diagnose lower urinary tract dysfunction (LUTD). Therefore, other non-invasive tests, such as ultrasound (US), post-voiding residual volume (PVR) assessment and symptom scales, are used as well for objective definition of the problem. OBJECTIVE: The aim of this study was to investigate the possible predictive function of the non-invasive diagnostic tests for the response to treatment. STUDY DESIGN: The prospective registry data of 240 patients with LUTD, from November 2006 to September 2013, were retrospectively analyzed. All patients were aged 5-14 years old. Patients with a previous diagnosis of vesicoureteral reflux (VUR), neurogenic bladder, monosymptomatic nocturnal enuresis (NE) were excluded from the study. Uroflowmetry, US, PVR and the Dysfunctional Voiding and Incontinence Symptom Scale (DVISS) were performed on every patient at their first visit and follow-ups. A DVISS <9 was considered as the DVISS response; parental opinion was based on International Continence Society criteria of clinical response. Time passed until clinical response was the last outcome parameter. RESULTS: Mean age was 8.2 years. Median follow-up was 60.5 months. A total of 62% of patients had complete response, 28.1% had partial response, and 9.7% had no response. Demographic variables were not associated with clinical outcome. Co-existing enuresis nocturna, multiple pharmacotherapy, and increased DVISS were associated with longer time until clinical response. Post-voiding residual volume assessment was the only test to have a prognostic value. DISCUSSION: Resolution rates of LUTD ranged from 40 to 90%. High resolution rate could be attributed to the long follow-up period, and the chance of spontaneous resolution. Treatment modalities and co-existing NE were associated with longer time until clinical response. Only PVR was associated with prognosis. This was the first study in literature to report such findings. It was seen that the normalization of pathologic patterns was a good sign for treatment success. The DVISS results showed significantly higher rates of incontinence compared to initial symptoms defined by the patients and/or their parents. This showed the importance of using scoring systems to better define the severity of symptoms. It was hard to establish a standardized cut-off value for bladder wall thickness on US. However, US was a good test for diagnosing additional pathologies. CONCLUSION: Increased PVR was the single tool that was associated with prognosis and, therefore, should always be performed after UF. In addition, DVISS can help parents be counseled about their treatment expectations.

Percutaneous Nephrolithotomy in Children: 17 Years of Experience.

PURPOSE: We analyzed factors that might affect outcome in terms of success and incidence of complications in children up to 17 years after undergoing percutaneous nephrolithotomy. MATERIALS AND METHODS: The data of 346 renal units (294 patients) were analyzed in terms of postoperative outcome. Factors investigated that might affect outcome were patient gender, age, stone laterality, largest stone size, stone burden, number of stones, location of a single stone, previous intervention and instrument size. RESULTS: Mean ± SD patient age was 8.51 ± 4.91 years, and male-to-female ratio was 209:137. Mean ± SD stone burden was 3.49 ± 3.3 cm(2). Stone-free rates after a single procedure were 84.4% and 73.1% in patients with and without clinically insignificant residual stones, respectively. On univariate and multivariate analyses stone burden and number of stones affected the stone-free rate. Complications consisted of bleeding in 41 patients (11.8%), postoperative urinary tract infection in 21 (6%), urosepsis in 4 (0.1%) and hydrothorax in 4 (0.1%). One patient died of multiple organ failure. Through the years blood transfusion and complication rates decreased, and the use of smaller instruments increased significantly. Although bleeding occurred less often in cases where a 14Fr sheath was used rather than a larger sheath (5% vs 12%, p = 0.142), the difference was not significant. No significant factor affecting complication rates was detected. CONCLUSIONS: As in adults, percutaneous nephrolithotomy can be used in children with acceptable complication rates and good success rates for surgical treatment of complex renal stones. Number of stones and stone burden are predictive of postoperative stone-free rate.

Does lower urinary tract status affect renal transplantation outcomes in children?

BACKGROUND: Lower urinary tract dysfunction (LUTD), an important cause of end stage renal disease (ESRD) in children, can adversely affect renal graft survival. We compared renal transplant patients with LUTD as primary renal disease to those without LUTD. METHODS: The data of 60 children who underwent renal transplantation (RTx) between 2000 and 2012 were retrospectively reviewed. All patients with LUTD were evaluated with urodynamic tests preoperatively; 15 patients required clean intermittent catheterization and 9 patients underwent augmentation cystoplasty before RTx. RESULTS: There were 25 children with LUTD. The mean follow-up for LUTD (+) and LUTD (-) groups were 63 (22-155) and 101 months (14-124), and graft survival were 76% for LUTD (+) and 80% for LUTD (-), respectively (P = .711). On the other hand, creatinine levels at last follow-up were significantly higher in the LUTD (+) group (1.3 ± 0.3 mg/dL vs 0.96 ± 0.57 mg/dL, P < .001). Infectious complications and postoperative urinary tract infection incidences were also higher in the LUTD (+) group (68% vs 25.7%, P = .002 and 60% vs 11.4%, P < .01). CONCLUSION: UTI is significantly higher after kidney transplantation in patients with LUTD. Despite the higher risk of UTI, renal transplantation can be performed safely in those patients with careful patient selection, preoperative management, and close postoperative follow-up. Restoration of good bladder function is the key factor in the success of kidney transplantation in those patients.

Renal transplantation in children with lower urinary tract dysfunction of different origin: a single-center experience.

INTRODUCTION: Renal transplantation in patients with lower urinary tract dysfunction (LUTD) of various origins is a challenging issue in the field of pediatric transplantation. We report our single-center experience to evaluate patient and graft survivals as well as the risks of the surgery and immunosuppressive therapy. PATIENTS AND METHODS: Among 70 pediatric transplant patients, 11 displayed severe LUTD. Videourodynamic tests were performed on all patients preoperatively as well as postoperatively if required. The cause of urologic disorders were neurogenic bladder (n = 5) and urethral valves (n = 6). Clean intermittent catheterization (CIC) was needed in six patients to empty the bladder. To achieve a low-pressure reservoir with adequate capacity pretransplantation augmentation ileocystoplasty was created in four patients and gastrocystoplasty in one patient. Three of the patients received kidneys from cadaveric and eight from living donors. All patients were treated with calcineurin-based immunosuppressive therapy. RESULTS: The mean age at transplantation was 15 +/- 4.7 years. The median follow-up after transplantation was 36 months (6 to 62 months). At their last visit the median creatinine level was 0.95 mg/dL (0.8 to 2.4 mg/dL). Three patients had recurrent symptomatic urinary tract infections who had augmented bladder on CIC. One patient with ileocystoplasty who developed urinary leak and ureteral stricture in the early postoperative period was treated by an antegrade J stent. CONCLUSION: Severe LUTD carried high risks for the grafted kidney. However, our data suggested that renal transplantation is a safe and effective treatment modality, if the underlying urologic diseases properly managed during the transplantation course. Since surgery and follow-up is more complicated, patient compliance and experience of transplantation team have significant impacts on outcomes.

Femoral nerve neuropathy following the psoas hitch procedure.

OBJECTIVE: To present two cases of femoral nerve neuropathy following a psoas hitch procedure performed during Leadbetter-Politano ureteric reimplantation, and emphasize the importance of this rare complication. PATIENTS: Two 2-year-old boys with complex urological histories underwent Leadbetter-Politano ureteric reimplantations with a psoas hitch using non-absorbable sutures independently in Turkey and the UK. Postoperatively both developed a femoral nerve palsy, which required re-exploration and removal of the sutures. In the first case the femoral nerve was not identified, but in the second case re-exploration revealed the femoral nerve stretched by the nearby suture. Both boys made a full recovery from their neuropraxia. CONCLUSION: These two cases illustrate the potential for nerve involvement with the psoas hitch manoeuvre, and the importance of early recognition of this complication. It is recommended that if a psoas hitch procedure is performed great care should be taken to identify the nerves, and if none are seen then the sutures are placed superficially into the belly of the muscle as the nerves may be sited deeper within it.

How does the presence of urologic problems change the outcome of kidney transplantation in the pediatric age group.

PURPOSE: We retrospectively reviewed the impact of functional and anatomic urologic disorders on kidney transplantation outcomes in terms of the surgical and long-term results of pediatric renal transplantation. MATERIALS AND METHODS: Of the 55 kidney transplantations in the pediatric age group, end-stage renal disease (ESRD) was secondary to genitourinary disorders in 23 patients (42%). The urologic abnormalities were vesicoureteral reflux in 13 patients (59%), neurogenic bladder in 4 patients (18%), posterior urethral valves in 3 patients (14%), renal stone disease in 4 patients (18%), bilateral ureterovesical junction obstruction in 3 patients (14%), and unilateral renal agenesis with concomitant contralateral ureteropelvic junction obstruction in 1 patient (4%). RESULTS: Of the 23 patients with urologic problems, 19 (83%) had functioning grafts with a mean follow-up of 49 months (range, 7-120 months). In the other 32 patients, 26 (81%) had functioning grafts with a mean follow-up of 43 months (range, 1-144 months). The graft survival, mean serum creatinine, and urinary tract infection rates of the patients did not differ between the two groups. CONCLUSIONS: The presence of functional urologic disorders as the cause of ESRD did not seem to change the outcome of renal transplantation in terms of graft survival when compared with patients without any urologic disorders. Urinary tract infections seem to be a little more common and yet clinically not significant in those patients. Reflux does not always need to be corrected before transplantation, unless it is causing symptoms or infection.

Renal transplantation in children with augmentation enterocystoplasty.

INTRODUCTION: We report our experience with renal transplantation in patients with severe bladder dysfunction who underwent prior augmentation cystoplasty. PATIENTS AND METHODS: Among 58 pediatric patients, three underwent bladder augmentation prior to renal transplantation. The patients' ages at transplantation were 10, 13, and 17. The etiologies of bladder dysfunction were posterior urethral valves in two patients and contracted bladder in one patient. Vesicoureteral reflux was concomitantly present in three patients. Pretransplant ileocystoplasty was created in two patients and gastrocystoplasty in one patient. All patients received kidneys from cadaveric donors and were treated with calcineurin-based immunosuppressive therapy. RESULTS: The patients had normal renal function without hydronephrosis of the transplanted kidney at 13, 22, 49 months follow-up. No patients had morbidity due to technical complications. All the patients were continent. Two of three patients required clean intermittent catheterization from a Mitrofanoff conduit, while one patient spontaneously voids without significant residual urine. Urinary tract infections observed in two patients were successfully treated without any permanent deterioration in graft kidney function. CONCLUSIONS: Our data suggest that augmentation cystoplasty is a safe and effective option to treat patients with end-stage renal disease undergoing kidney transplantation. Experience of the transplantation team with a qualified pediatric urologist is essential due to the potentially high risk of surgical complications during the long term management of these patients.

Comparison of spiral CT and US in the evaluation of pediatric urolithiasis.

The objective of the study was to determine the value of spiral computerized tomography (CT) in detecting urolithiasis in pediatric patients and compare its efficacy with ultrasound (US). Twenty-nine infants aged between 2 to 94 months with clinical presentation suggestive of urolithiasis and a negative or indeterminate plain film were included in the study. Abdominal US and spiral CT were performed in all patients. Presence, size and localization of stones were noted for each patient on both CT and US. The diagnosis of urolithiasis was confirmed by passage of stones spontaneously, extracorporeal shockwave lithotripsy (ESWL), surgery, or clinical follow-up. Presence of stones was confirmed in 23 of 29 patients (79%). Eight patients had single stone and the remaining 15 had multiple stones either in a single localization (single kidney or single ureter) or multiple localizations. Spiral CT detected 57 stones (45 renal and 12 ureteral). US detected 34 stones (59.6%) in 18 (78.2%) patients. US was able to localize 31 stones (68.8%) in 21 kidneys (75%), and 3 stones (25%) in 11 ureters (27.2%). Spiral CT is very effective in the diagnosis of pediatric urolithiasis. Spiral CT is more efficient than US in imaging pediatric patients with symptoms and signs of urolithiasis, when KUB is inconclusive.

Cellular congenital mesoblastic nephroma with contralateral medullary nephrocalcinosis.

Congenital mesoblastic nephroma is the most common renal mass in the newborn period and can present with atypical findings. Certain associated conditions such as hypercalcaemia, hypertension and reninism have been described. We report a cellular variant of congenital mesoblastic nephroma with hypercalcaemia and contralateral medullary nephrocalcinosis.

Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature.

AIM: To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature. METHODS: Nine patients fulfilled the ascertainment criteria of WFS (insulin-dependent diabetes mellitus and optic atrophy). All patients were evaluated by the departments of paediatrics, ophthalmology, audiology, urology and medical biology. RESULTS: The earliest manifestation of WFS was insulin-dependent diabetes mellitus (at a median age of 6.9 y), followed by optic atrophy (8.9 y), diabetes insipidus (10.2 y) and deafness (10.5 y). Short stature was found in five cases, delayed puberty in two cases and hypergonadotropic hypogonadism in one case. Audiography disclosed hearing loss at high frequency in all patients (100%), but only five patients had clinical subjective hearing problems. Intravenous pyelography revealed hydroureteronephrosis in eight patients. Urodynamics revealed a normal bladder in only one patient. Three patients had a low-capacity, low-compliance bladder, detrusor external sphincteric dyssynergia and emptying problem, while five had an atonic bladder. Ocular findings were optic atrophy, low visual acuity and colour vision defects. Visual field tests revealed concentric and/or peripheral diminution in five patients. Visual evoked potentials were abnormal (reduced amplitude to both flash and pattern stimulation) in seven patients. Cranial magnetic resonance imaging showed mild or moderate atrophy of the optic nerves, chiasm, cerebellum, basal ganglia and brainstem in six patients; there was a partially empty sella in one case. There was no evidence of mitochondrial tRNA(Leu) (UUR) A to G (nucleotide 3243) mutation. CONCLUSION: Wolfram syndrome should be evaluated in a multidisciplinary manner. Some specific and dynamic tests are necessary to make a more precise estimate of the prevalence and median age of the components of WFS. Short stature is a common feature in WFS. Hypogonadism may be hypogonadotropic or hypergonadotropic. Bladder dysfunction does not always present as a large atonic bladder in WFS. A low-capacity, high-pressure bladder with sphincteric dyssynergia is also common.

Bilateral supernumerary kidney: imaging findings.

Supernumerary kidney is a rare urogenital anomaly with less than 100 cases reported. Bilateral supernumerary kidney is even more rare and to our knowledge there are three cases reported in the literature. Herein we present the computed tomography (CT), excretory urography (IVP), and CT angiography (CTA) findings in a patient with bilateral supernumerary kidneys.

Cystine calculi in children: the results of a metabolic evaluation and response to medical therapy.

PURPOSE: We describe baseline metabolic abnormalities and evaluate mercaptopropionylglycine plus potassium citrate treatment for urinary abnormalities and to prevent new stone formation in children with cystine stones. MATERIALS AND METHODS: Daily urinary excretions of calcium, oxalate, citrate, magnesium, urate and phosphorus were determined in 18 children with cystine stone and 24 healthy children. The cystine stone cases were treated with 10 to 15 mg./kg. alpha-mercaptopropionylglycine and 1 mEq./kg. potassium citrate daily for a median 15 months. The potassium citrate dose was adjusted to render urinary pH 6.5 to 7.5. RESULTS: There was no significant difference in baseline metabolic profile between the cystine stone and control groups except for citrate. The cystine stone group excreted less citrate than the control group (p = 0.044). After treatment median plus or minus standard deviation urinary cystine 245 +/- 233 to 140 +/- 106 mmol./mol. creatinine decreased from (p = 0.015), and urinary citrate increased from 255 +/- 219 to 729 +/- 494 mg./1.73 m.2 (p = 0.003). No serious adverse reaction was noted. Of the 15 patients with followup data 5 (33%) had 8 recurrent calculi (recurrence rate 0.64 per patient year). CONCLUSIONS: Our results suggest that further investigation of low citrate excretion is needed in cystinuric children. Potassium citrate therapy is effective in increasing urinary pH and urinary citrate. However, high recurrence rate and persistent cystinuria in our patients emphasize the inadequacy of our treatment schedule in the prevention of recurrent cystine calculi.

Ureteropelvic junction obstruction and coexisting renal calculi in children: role of metabolic abnormalities.

OBJECTIVES: To identify the role of metabolic risk factors in the development of renal calculi associated with ureteropelvic junction obstruction (UPJO) in children. METHODS: A metabolic evaluation, including serum biochemistry and measurement of daily urinary calcium, creatinine, oxalate, citrate, magnesium, urate, and inorganic phosphorus, was carried out in three different populations as follows: UPJO group, 12 children with UPJO and coexisting nephrolithiasis (median age 6 years); calcium stone formation (CSF) group, 90 children with normal urologic anatomy and calcium urolithiasis (median age 7 years); control group, 24 healthy children (median age 7.3 years). The investigation data of the three groups were compared. RESULTS: The stone composition was calcium oxalate in 9 of the 12 children with UPJO. The investigation data of the UPJO group and CSF group were not significantly different. Both groups differed from the control group in a similar manner. The UPJO and CSF groups excreted more oxalate (P = 0.067 and 0.014, respectively) and less citrate (P = 0.020 and 0.010, respectively) than did the control subjects. CONCLUSIONS: Abnormal urinary biochemistry seems to have an additional role in the high incidence of nephrolithiasis in children with upper tract anatomic anomalies, and the urinary biochemistry should be screened in such children.

Resection of residual masses alone: an alternative in surgical therapy of metastatic testicular germ cell tumors after chemotherapy.

OBJECTIVES: The standard approach in postchemotherapy surgery of testicular cancer is retroperitoneal lymph node dissection. However, because of its high rate of morbidity (mainly loss of antegrade ejaculation), various approaches have been suggested. We present our experience in limited postchemotherapy surgery for residual masses. METHODS: Seventy-five patients underwent resection of residual masses after chemotherapy. After tumor marker levels returned to normal, patients with residual lymph nodes greater than 2 cm in nonseminomatous germ cell tumors and greater than 4 cm in seminomas and any resectable parenchymal lesions were candidates for the limited surgery. We performed 82 operations on 75 patients. The ejaculatory function of the patients after surgery was assessed during their last visit. RESULTS: The histologic features of the resected specimens were necrosis/fibrosis, teratoma, and viable cancer in 33.3%, 45.3%, and 21.3%, respectively. Two patients had a relapse in the retroperitoneum, two in the thorax, and one in the liver. In 3 of these 5 patients, repeated limited resections were performed. At a mean follow-up of 37.4 months (range 3 to 127), 62 patients (82.7%) had no evidence of disease, 8 patients (10.7%) had died, 3 patients were alive with disease, and 2 patients were lost to follow-up. Removal of the residual masses was incomplete in 7 patients (9.3%). Five (45.5%) of 11 patients with viable cancer cells in the specimen had no evidence of disease after complete removal of the residual mass; in the group with incomplete removal, all patients had evidence of disease. The prognosis of patients with incomplete resections and those with viable cancer cells in the specimen was found to be worse than for those with complete resections and those with other histologic findings. Antegrade ejaculation was preserved in 58 (93.6%) of the 62 living patients. CONCLUSIONS: In the present series, our surgical technique resulted in an excellent antegrade ejaculation rate and a rate of relapse attributable to the surgical technique that was very low (3%). Thus, removal of the residual mass only may be a beneficial option in postchemotherapy surgery.

Percutaneous nephrolithotomy in older children.

PURPOSE: The aim of this study was to evaluate the safety and efficacy of percutaneous nephrolithotomy (PCNL) in pediatric patients, older than 8 years, without any technical and instrumental modifications. METHODS: The authors retrospectively evaluated the data of 16 percutaneously treated kidneys of 14 patients with a mean age of 11 years (range, 8 to 17). The mean stone burden was calculated as 301 mm2 (range, 120-750). Percutaneous accesses were done under fluoroscopic control, and 24F to 30F Amplatz dilators were used depending on patient size. Ultrasonic and laser lithotripsy were performed to fragment calculi. RESULTS: Mean operating time was 111 minutes (range, 60 to 210 min) and no intraoperative or postoperative major complication was observed. Mean hemoglobin drop after the procedure was 1.16 g/dL (range, 0.3 to 2.8). Blood transfusion was required in only 1 patient, and mean postoperative hospitalization was 4.6 days (range, 3 to 10). Stone-free rate was calculated as 69% (11 of 16), but with residual fragments smaller than 4 mm, the success rate becomes 100% at patient's discharge. CONCLUSIONS: PCNL is an effective and safe form of therapy in pediatric stone disease. Especially in older children the use of the same instruments and technique as in adults may achieve equal results without any increased risk of possible morbidity and need of blood transfusion.

A study of the etiology of idiopathic calcium urolithiasis in children: hypocitruria is the most important risk factor.

PURPOSE: To determine the association of metabolic risk factors with pediatric calcium urolithiasis we compared metabolic evaluation data on children with idiopathic calcium stones and those on healthy children. MATERIALS AND METHODS: Metabolic evaluation was done in 78 calcium stone formers 1 to 15 years old (mean age 7.2) who were free of urinary tract infection, anatomical abnormalities, and metabolic, endocrinological and intestinal disorders, and in 24 healthy children. Evaluation included serum biochemistry, and measurement of daily excretion of urinary calcium, oxalate, urate, phosphorus, citrate and magnesium. RESULTS: Demographic characteristics, serum parameters, and daily excretion of calcium, urate, phosphorus and magnesium did not differ statistically in the 2 groups. However, urinary oxalate was significantly higher and urinary citrate was significantly lower in stone formers than in controls (p = 0.002 and 0.028, respectively). Hypocitruria and hyperoxaluria were 4.3 and 3-fold more common in stone formers than in controls, respectively. Multivariate analysis using logistic regression showed that hypocitruria was the only significant risk factor for idiopathic calcium stones (p = 0.008). CONCLUSIONS: Hypocitruria was the most important risk factor in our patients. Hyperoxaluria was also common and accompanied hypocitruria in many stone formers. In contrast to many previous reports, we failed to show that hypercalciuria is an important metabolic defect for idiopathic calcium stones, possibly because our study evaluated a different population.