Alfredo Berrettini

Issues with the External and Internal Genitalia in Postpubertal Females Born with Classic Bladder Exstrophy: A Surgical Series

STUDY OBJECTIVE To report our experience with surgical management of gynecological issues in postpubertal female patients born with classic bladder exstrophy (BE). DESIGN Retrospective review of clinical charts. SETTING Tertiary pediatric urology unit. PARTICIPANTS 16 postpubertal female BE patients. INTERVENTIONS Cosmetic surgery to the external genitalia, widening of vaginal introitus, and treatment of pelvic organ prolapse. MAIN OUTCOME MEASURES patient satisfaction and additional gynecological problems during follow-up. RESULTS Eight cases (14-43 years old) underwent cosmetic procedures. All resulted in improved cosmesis, but one case complained of reduced erogenous sensitivity after clitoridoplasty. Five cases (17-20 years old) underwent widening of the vaginal introitus. The modification was as short as possible to avoid any foreshortening of the dorsal vaginal wall. Three cases 33-45 years old presented with pelvic organ prolapse. All were sexually active. One had already given birth. All the three had previously been submitted elsewhere to a posterior vaginal cutback and one to hysterectomy. Two are still awaiting further treatment due to recurrent prolapse. CONCLUSION Female BE patients can seek advice to improve the appearance of the external genitalia at any ages. Clitoridoplasty should be considered carefully, because it may harm erogenous sensitivity. Problems with the vaginal introitus typically present at around 20 years of age, probably when BE patients become sexually active. Opening too widely the introitus can cause a foreshortening of the posterior vaginal wall, predisposing to pelvic organ prolapse. Treatment of pelvic organ prolapse is difficult.

Bladder urothelial neoplasms in pediatric age: Experience at three tertiary centers

INTRODUCTION Urothelial bladder neoplasms (UBN) typically occur in patients in their sixth or seventh decade of life while they are infrequent in children and young adults. They occur in 0.1-0.4% of the population in the first two decades of life. Their management is controversial and paediatric guidelines are currently unavailable. OBJECTIVE To further expound the available data on the outcome of patients younger than 18 year old diagnosed with UBN. STUDY DESIGN We retrospectively reviewed the files of all the consecutive paediatric patients with UBN treated in three tertiary paediatric urology units from January 1999 to July 2013. Lesions were classified according to the 2004 WHO/ISUP criteria as urothelial papillomas (UP), papillary urothelial neoplasm of low malignant potential (PUNLMP), low-grade urothelial carcinoma (LGUC), and high-grade urothelial carcinoma (HGUC). RESULTS The table shows the results. Management after TURB varied among centres. One centre recommended only follow-up US at increasing intervals whereas another follow-up US plus urine cytologies and endoscopies, every three months in the first year, and at increasing intervals thereafter. After a median follow-up of 5 years (range 9 months-14.5 years), none of the patients showed disease recurrence or progression. DISCUSSION UBN is an uncommon condition in children and adolescents and, unlike in adults, its incidence, follow-up and outcome still controversial. Paediatric guidelines are currently lacking and management varies among centres. Gross painless haematuria is the most common presenting symptom. Therefore, this symptom should never be underestimated. US is generally the first investigation and additional imaging seems unnecessary. TURB often allows for complete resection. Lesions are generally solitary, non-muscle invasive, and low-grade (mainly UP and PUNLMP). Ideal follow-up protocol is the most controversial point. Reportedly, recurrence or progression during follow-up is uncommon in patients under 20 years, recurrence rate 7% and a single case of progression reported so far. Accordingly, a follow-up mainly based on serial US might be considered in this age group compared to adults where also serial endoscopies and urine cytologies are recommended. In the selection of the follow-up investigations, it should also be taken into consideration that urine cytology has a low sensibility in the detection of low-grade lesions while cystoscopy in young patients requires a general anaesthesia and hospitalization, and carries an increased risk of urethral manipulation. CONCLUSION UBN is a rare condition in children. Ultrasound is generally accurate in order to visualize the lesion, and TURB can treat the condition. Lesions are generally low-grade and non-muscle invasive, but high-grade lesions can also be detected. In present series, after TURB, follow-up US monitoring at increasing intervals was used at all centres, follow-up cystoscopies were added in two centres, but with different schedules. Urine cytologies were considered only at one centre. After a median follow-up of 5 years (range 9 months-14.5 years), none of the patients showed recurrence or progression of the disease.

Observational retrospective study on acquired megalourethra after primary proximal hypospadias repair and its recurrence after tapering.

INTRODUCTION Acquired megalourethra (AMU) after repair of proximal hypospadias can be a serious complication. An observational retrospective study of its incidence among different types of repair was performed. MATERIALS AND METHODS Clinical charts of patients operated on for proximal hypospadias were reviewed. INCLUSION CRITERIA all primary hypospadias operated in 1991-2004, with the meatus positioned in proximal penile, scrotal or perineal position. RESULTS Of 770 hypospadias cases treated, 130 (16%) were proximal. Seventy-two patients (55%) were treated using preputial flaps: 36 with a tubularized preputial island flap (TIF) and 36 an onlay island flap (OIF). Fifty-eight patients (45%) underwent staged repairs: Belt-Fuquà (BF) in 18 and Bracka procedure in 40 cases. After a mean follow up of 16 years (range 6-19) the overall incidence of complications for each technique was: TIF 36%; OIF 33%; BF 25%; two-stage Bracka 7.5%. The most common complication encountered was neo-urethral fistula. AMU occurred in only 5 cases, none with associated distal urethral stenosis, all in the TIF and OIF groups, and all successfully treated by reduction re-do urethroplasty. CONCLUSION A very small number of the patients operated using preputial island flaps techniques developed AMU. None of the staged repairs developed AMU, and this is the preferred choice in proximal hypospadias when the urethral plate requires division and/or substitution. All cases of AMU resolved after urethral tapering.

Lower urinary tract symptoms (LUTS) after renal transplant in non-urologic anuric patients

Castagnetti M, Zhapa E, Berrettini A, Ghirardo G, Murer L, Zanon GF, Rigamonti W. Lower urinary tract symptoms (LUTS) after renal transplant in non‐urologic anuric patients.
Pediatr Transplantation 2010: 14:859–862.

Modified VQZ-Plasty for the Creation of a Catheterizable Stoma Suitable as a Neoumbilicus in Selected Bladder Exstrophy Patients

OBJECTIVE To present a modified VQZ-plasty technique to create a catheterizable stoma appearing as a normal-looking neoumbilicus that may be used in selected bladder exstrophy (BE) patients. METHODS A catheterizable conduit is created according to the Mitrofanoff principle. An asymmetric V flap, with the base at the level selected as the upper margin of the neoumbilicus, is created and incorporated into the spatulated appendix. Then a Q flap is developed parallel to the shorter margin of the V flap, rotated, and anastomosed to the upper edge of the appendix and to the free margin of the V flap on the contralateral side. The skin gap is filled by a rotational flap overlying the emerging appendix and stoma site. RESULTS To date the technique has been used in 2 BE patients. After a follow-up of 10 and 6 months, respectively, both have good cosmetic and functional results, with an easily catheterizable stoma. CONCLUSIONS The described technique allows for the creation of a nearly ideal stoma that looks like a normal neoumbilicus in selected BE patients yet without an umbilicus and requiring the placement of a catheterizable conduit.

Long-term (>5 years) donor site outcome after mandibular labial mucosa graft harvesting for urethral reconstruction in children.

OBJECTIVE To report long-term donor site outcome after mandibular labial mucosa graft (LMG) harvesting in children. MATERIAL AND METHODS Donor site outcome was evaluated after a follow-up of at least 5 years in 30 patients < or =14 years of age at surgery undergoing mandibular LMG harvesting for urethral reconstruction. Outcome domains considered included intra-oral donor site scarring, alteration in salivary flow, peri-oral numbness and tightness of the mouth. RESULTS After a median follow-up of 8 years (range 6-11.8 years), at a median age at evaluation of 13.4 years (range 9-22.2 years), 16 (53%) of the patients reported to feel a thickening at the harvesting site, none reported alterations in the salivary flow, and one patient each reported tightness of the mouth and peri-oral numbness. None of the patients reported symptoms to be bothersome enough to seek treatment. CONCLUSION LMG harvest is safe in children and associated with minimal long-term intra-oral symptoms.

Resultant hypospadias after epispadias repair in bladder exstrophy patients: a difficult surgical task with high complication rate.

BACKGROUND/PURPOSE The aim of this study was to analyze the complication rate in male bladder exstrophy (BE) patients undergoing flap or graft urethroplasty for the repair of resultant hypospadias after epispadias repair. METHODS We retrospectively reviewed the charts of 22 male BE patients who underwent 24 urethroplasties for resultant hypospadias between 2000 and 2009. Median patient age was 4.2 (range, 1.5-26.5) years, and median follow-up was 7.5 (range, 0.8-10.3) years. Meatal location after epispadias repair was midshaft in 6 cases and proximal shaft in 15. Complications were compared in relation to meatal position, type of urethroplasty (no graft vs graft), use of second-layer coverage of the urethroplasty, and use of suprapubic diversion. RESULTS Overall, complications developed in 12 (50%) patients, including 10 urethrocutaneous fistulas and 2 urethroplasty dehiscence. Univariate analysis failed to show any differences between complicated and uncomplicated cases in all the variables. Only the 3 cases undergoing a 2-stage repair had fully successful outcomes. CONCLUSIONS Urethroplasty in patients with BE has a high complication rate. Quality of local tissue and presence of scarring are possibly the 2 major determinants of a poor outcome. A staged repair seems the safest, although this commits the patient to 2 procedures.

Pediatric nephrolithiasis: a systematic approach from diagnosis to treatment

Nephrolithiasis is a rare disease in children. For many years children with kidney stones have been managed like “small adults”, but there are significant differences between the pediatric and the adult age in clinical presentation, etiology and treatment. Management of this condition in children has some peculiarities with respect to the adult, as it is often the sign of an underlying metabolic abnormality. Some of these metabolic alterations can lead to serious consequences, such as chronic renal failure, if not adequately diagnosed and treated. Moreover, stones in children with a metabolic abnormality can recur throughout their life, with the need for repeated surgical procedures over the years. So a systematic approach to every child with nephrolithiasis is mandatory to diagnose metabolic defects and establish a personalized therapy. Even the surgical approach in the child has changed significantly over the last two decades: open surgery has now been almost completely replaced by minimally invasive surgery due to the miniaturization of endoscopic instruments and technical advancements in optical and lithotripters systems. The goal is to obtain a stone-free status with the lowest number of minimally invasive procedures and with no complications. Many breakthroughs in our understanding of the physiopathology of renal stones and in surgical technology have been made over the last decades, but the best approach to use in a child with nephrolithiasis remains a true challenge for pediatric nephrologists and urologists.

Strategy and Tactics in the Management of Bladder Exstrophy

Bladder exstrophy is a severe and rare congenital malformation involving the abdominal wall, urinary tract, genitalia, and pelvic musculoskeletal structures. It remains a challenge for the pediatric urologist. Prenatal diagnosis is possible with routine ultrasound, but in most cases it is missed. The incidence is decreasing but not in low socioeconomic populations. The goal of surgery is to achieve urinary continence and preserve normal renal function with both functionally and cosmetically acceptable genitalia in order to reach a good quality of life. Different surgical techniques were proposed, but current management is well established, but some controversial points are neonatal versus delayed surgery and need, type, and timing of osteotomy procedure. Although modern techniques have improved the success of surgery, a baby with bladder exstrophy will undergo many operations, and the vast majority of these patients will eventually need augmentation cystoplasty and a clean intermittent catheterization to achieve urinary continence.

Response to Snodgrass and Bush

We sincerely appreciate the comments made by Warren Snodgrass and Nicol Bush regarding our paper. First of all, we need to clarify that of our population of 130 patients only 66 have already reached pubertal development (55 in the preputial flap group and 11 in the staged repair). The aim of the published paper, as already clearly stated in our discussion, was limited to a retrospective analysis of the potential risk of development of megalourethra and fistula in this population. We fully agree that there is indeed a potential large amount of very important data retained in these series which may help to better understand some of the still unresolved questions on long-term outcome of hypospadias repair. Unfortunately we will need a few more years of follow-up before we will be able to fulfill these requests. Regarding the multiple questions mentioned we will try to provide some specific answers. Severe curvature and definition of ‘proximal hypospadias’: The definition of proximal hypospadias in our series should not be strictly interpreted in the usual manner, reserving this definition only to a perineal and/or scrotal location of the meatus, but including also patients with proximal penile hypospadias and, more widely, patients in whom it was not possible to preserve the urethral plate. Thus applying the concept of proximal hypospadias more extensively though less accurately, but certainly none of these patients had a distal or sub-coronal hypospadias. This may therefore explain the reduced number of corporoplasties reported in our series. Moreover, it is our attitude to adopt a less aggressive surgical approach in very small children for the curvature correction, avoiding any ventral lengthening because of potential concerns about the longterm outcome. Cosmetic and functional results: Once again, the purpose of this work was not to provide a detailed report of the outcome in terms of follow-up strategies and assessment methods; the fact of not losing patients to follow-up results from a very strict postoperative protocol. Patients are seen immediately postoperatively, 1 year after surgery and usually at pre-school age (5 years) and at pubertal development. Only in the more recent years we have systematically started the process of a standardized protocol including uroflow and pre and post-micturition US assessment for residual urine. Indeed, we are accustomed, and we are requested by families, to check our patients consistently over time. Living in a country where families tend not to move frequently (as may happen more commonly in North America), it is therefore much easier not to lose contact with them. Finally we agree that much more information could be obtained from the series of patients preliminarily presented and it is our intention, supported by these positive comments made by our colleagues, to provide more specific papers in the future. Best regards