Cystinuria: clinical practice recommendation.

Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH. We developed clinical practice recommendation for diagnosis, surgical and medical treatment, and follow-up of patients with cystinuria. Elaboration of these clinical practice recommendations spanned from June 2018 to December 2019 with a consensus conference in January 2019. Selected topic areas were chosen by the co-chairs of the conference. Working groups focusing on specific topics were formed. Group members performed systematic literature review using MEDLINE, drafted the statements, and discussed them. They included geneticists, medical biochemists, pediatric and adult nephrologists, pediatric and adult urologists experts in cystinuria, and the Metabolic Nephropathy Joint Working Group of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN members. Overall 20 statements were produced to provide guidance on diagnosis, genetic analysis, imaging techniques, surgical treatment (indication and modalities), conservative treatment (hydration, dietetic, alkalinization, and cystine-binding drugs), follow-up, self-monitoring, complications (renal failure and hypertension), and impact on quality of life. Because of the rarity of the disease and the poor level of evidence in the literature, these statements could not be graded. This clinical practice recommendation provides guidance on all aspects of the management of both adults and children with cystinuria, including diagnosis, surgery, and medical treatment.

Can Oral Fesoterodine Be an Alternative for Intravesical Oxybutynin Instillations in Children with Neuropathic Bladder Dysfunction?

PURPOSE: A low-pressure bladder in children with neuropathic bladder dysfunction can be achieved using anticholinergic medication. Due to the significant side effects of oral oxybutynin, our patients are treated with daily intravesical oxybutynin instillations. Newer oral anticholinergic medication, such as fesoterodine, claim to have fewer side effects in a once daily formulation. Because once-daily oral intake is easier than performing twice-daily intravesical instillations, we studied the effects of switching from intravesical oxybutynin to oral fesoterodine and compared the clinical response, urodynamic parameters and side effects. PATIENTS AND METHODS: Twenty children (11 girls, 9 boys, 4-17 years) with neuropathic bladder dysfunction who perform clean intermittent catheterization and use intravesical oxybutynin instillations twice daily were included in this prospective study. Voiding diaries, a behavioural checklist, urodynamic investigations, vital signs and blood samples were evaluated at baseline during treatment with intravesical oxybutynin and repeated after 40 days of oral fesoterodine. RESULTS: Out of 20, 13 (65%) children showed an identical objective dryness (pad-test), 2 (10%) improved and 5 (25%) got worse. Seven (35%) children reported equal dryness, 7 (35%) reported improvement and 6 (30%) reported that it got worse. From a urodynamic perspective, 13 (65%) children remained identical, 3 (15%) improved and 4 (20%) got worse. Four (20%) children reported a light to moderate dry mouth, 1 (5%) a headache, 1 (5%) behavioural changes during fesoterodine administration, 1 (5%) an increased appetite, 1 (5%) nausea and 1 (5%) hot flushes. CONCLUSIONS: The urodynamics after 40 days of fesoterodine were in 16 (80%) identical or better and could be a safe alternative for oxybutynin instillations in children with neuropathic bladder dysfunction.

Efficacy of bladder irrigation and surveillance program in prevention of urinary tract infections and bladder calculi in children with an ileocystoplasty and bladder neck repair.

PURPOSE: In children with bladder augmentation and particularly in those with bladder neck repair (BNR), urinary tract infections (UTI) and bladder calculi are a recognised problem. Bladder irrigation potentially prevents these complications. Our aim was to investigate the efficacy of bladder irrigation supported by a surveillance program in prevention of UTI and bladder calculi in these children. METHODS: A cohort of children subjected to ileocystoplasty with a stoma for clean intermittent self catheterisation with or without BNR was retrospectively analysed. The children were subjected to bladder irrigation and monitored by Clinical Nurse Specialists (CNS) according to a protocol. Patients' demographics, treatment methods and postoperative management were reviewed. Compliance to bladder irrigation was assessed with questionnaires. UTI recurrence and bladder calculi during follow-up were assessed. RESULTS: 28 children were included in this study. The median follow-up was 48 months (range 6-87). Compliance could be assessed in all children, except in one child (3.5%). There was no recurrent UTI reported, bladder calculi occurred in two children (7%). CONCLUSION: Our bladder irrigation regime resulted in a low incidence of calculi by preventing recurrent UTI. The surveillance program resulted in high compliance rates in children with an augmented bladder with or without BNR.

Lower Urinary Tract Terminology in Daytime Lower Urinary Tract Symptoms in Children: A View of the Pediatric Urologist.

CONTEXT: Epidemiological studies have demonstrated rates of lower urinary tract (LUT) symptoms in school-aged children as high as 20%. Symptoms of LUT may have significant social consequences. The diagnosis of LUT symptoms in children is mainly based on the subjective impression, and it is therefore important to translate the clinical impression into a structured LUT terminology. OBJECTIVE: To have a view, as a pediatric urologist and a urologist, of the LUT terminology proposed by the Standardization Committee of the International Children Continence Society. EVIDENCE ACQUISITION: In addition to the known LUT terminology conditions that are mainly functional, we propose to add specific urological malformations due to congenital or acquired urological conditions, leading to LUT symptoms. EVIDENCE SYNTHESIS: In addition to the opinion-based statements and practical clinical suggestions, we have added recent literature to support the statements and suggestions. CONCLUSIONS: LUT symptoms in children can be from a functional or an anatomical origin. As the diagnosis is often made on the basis of subjective and variable information, experience of the medical caretaker is also important to allow categorization of the condition of the child into a well-structured LUT terminology. Medical caretakers should be aware of possible evidence-based diagnostic tools and be able to follow guidelines and algorithms to come to the correct diagnosis and condition of the child to allow one to distinguish functional from congenital or acquired anatomical LUT conditions. PATIENT SUMMARY: Up to 20% of school-aged children can have wetting problems. Some wetting problems can be temporary, due to the young age, stress, psychological problems, or other associated problems such as bowel dysfunction. However, some wetting problems in children are due to a condition of the kidneys, bladder, or elsewhere in the urinary tract since they were born, and should be well investigated, as in most such situations the LUT problems could be treated surgically.

Vesicoscopic bladder neck procedure in children: what we have learned from the first series.

OBJECTIVE: To assess the results of endoscopic bladder neck procedure on the anterior bladder wall in children. MATERIALS AND METHODS: Surgery is done in the lithotomy position using three 5-mm ports. The bladder is insufflated with CO2. A U-shaped incision is made around the bladder neck. A mucosal strip is tabularized around a 12 French catheter and covered with the second layer of mucosa. Twenty procedures were performed on 18 patients (mean age, 9.8 years), and the follow-up period was >1 year (mean, 34 months). Mean operation time was 149 minutes. Twelve patients had neurogenic lower urinary tract dysfunction. Fifteen patients failed earlier bladder neck surgery, predominantly fascia sling suspension. Preoperatively, all patients had low detrusor leak point pressure. Clean intermittent catheterization (CIC) was resumed through the urethra in 11 patients and through a stoma in 6 patients. RESULTS: Two patients needed conversion because of CO2 leakage. Six patients were dry, and 4 improved in the short term (3-6 months). After 1 year of follow-up, 2 patients were dry, and 6 improved. In the long term, 1 (9%) out of 11 patients who were catheterized through the urethra was dry, and 3 of the 11 patients (27%) improved. Of the 6 patients with a CIC stoma, 1 (17%) was dry, and 3 (50%) improved. CONCLUSIONS: Endoscopic bladder neck surgery is, for most patients, a minor operation, but the long-term results are disappointing. The construction of a continent channel for CIC can improve the outcome when anterior bladder neck plasty is performed.

Introducing the HOPE (Hypospadias Objective Penile Evaluation)-score: a validation study of an objective scoring system for evaluating cosmetic appearance in hypospadias patients.

OBJECTIVE: To determine the reliability and internal validity of the Hypospadias Objective Penile Evaluation (HOPE)-score, a newly developed scoring system assessing the cosmetic outcome in hypospadias. PATIENTS AND METHODS: The HOPE scoring system incorporates all surgically-correctable items: position of meatus, shape of meatus, shape of glans, shape of penile skin and penile axis. Objectivity was established with standardized photographs, anonymously coded patients, independent assessment by a panel, standards for a "normal" penile appearance, reference pictures and assessment of the degree of abnormality. A panel of 13 pediatric urologists completed 2 questionnaires, each consisting of 45 series of photographs, at an interval of at least 1 week. The inter-observer reliability, intra-observer reliability and internal validity were analyzed. RESULTS: The correlation coefficients for the HOPE-score were as follows: intra-observer reliability 0.817, inter-observer reliability 0.790, "non-parametric" internal validity 0.849 and "parametric" internal validity 0.842. These values reflect good reproducibility, sufficient agreement among observers and a valid measurement of differences and similarities in cosmetic appearance. CONCLUSIONS: The HOPE-score is the first scoring system that fulfills the criteria of a valid measurement tool: objectivity, reliability and validity. These favorable properties support its use as an objective outcome measure of the cosmetic result after hypospadias surgery.