Bilateral orchidopexies: synchronous or metachronous? Survey of BAPS and BAPU members and single-centre comparison.

BACKGROUND/AIM: Approximately 20% of undescended testes (UDT) are bilateral. It is unclear whether bilateral orchidopexy (BO) should be undertaken synchronously (SBO) or metachronously (MBO). Our aim was to investigate current UK practice and the complications of SBO vs MBO. MATERIALS & METHODS: Following approval of BAPS and BAPU ethics committee, a survey was circulated to UK consultant pediatric surgeons and urologists regarding practice. A departmental retrospective review was additionally carried out for patients undergoing BO between 2005 and 2017. RESULTS: Forty-three consultant surgeons from 20 centres completed the survey. Overall, SBO was preferred by 70% for bilateral palpable UDT versus 30% for bilateral impalpable UDT. When one side was palpable and the other impalpable, 70% preferred SBO. Pediatric urologists were significantly more likely to undertake SBO than pediatric general surgeons. One hundred eighty-eight patients (376 testicular units) were identified who had undergone BO with a median follow up of 9 months. 144/188 (76.6%) underwent SBO, while 44 had MBO. There was no statistical difference in the complication rate between the two groups (7.6% in SBO vs 9.1% in MBO; p = 0.66). CONCLUSIONS: The majority of the responding UK consultants, in particular pediatric urologists, favor SBO. This potentially offers a reduction in cost, more rapid completion of treatment, and is not associated with additional complications by comparison to MBO. We recommend SBO to be standard practice for bilateral UDT whenever possible. LEVEL OF EVIDENCE: Level III, Retrospective Comparative Study.

Cystoscopic-assisted laparoscopic excision of prostatic utricle.

We present a video of our technique for resection of a large prostatic utricle (PU) in a patient who presented initially with disordered sexual development. His karyotype was 46XY, and phenotypically had penoscrotal hypospadias, bifid scrotum, and retractile right testis. An initial micturating cystourethrogram (MCUG) demonstrated the utricle but failed to cannulate the bladder. Being asymptomatic, we carried out staged repair of his hypospadias. Later, he started to have recurrent epididymo-orchitis with resistance to multiple antibiotics. Examination under anaesthesia was done and ruled out meatal or neo-urethral strictures. A subsequent MCUG demonstrated the large utricle and its relation to the bladder. We carried out a cystoscopic-assisted laparoscopic excision. There has been no consensus about the best surgical approach to resect a PU and most known procedures involved extensive pelvic dissection and carried a significant risk of damage to the pelvic nerves. The laparoscopic approach seems to be promising in this field as it provides proper view of the deep pelvis with reasonable magnification, less dissection and shorter postoperative pain and scarring. Cystoscopic assistance in this technique was a great addition to provide counter-traction movement and facilitate proper dissection.

Laparoscopic-assisted retroperitoneal nephrectomy in autosomal recessive polycystic kidney disease.

OBJECTIVE: Autosomal recessive polycystic kidney disease (ARPKD) occurs in 1 in 20 000 live births. A mortality rate of 30-40% is reported, generally relating to pulmonary hypoplasia, and 60% require renal replacement therapy (RRT) by 10 years. In the neonatal period, the large kidneys can cause significant mass effect, with the need for prolonged respiratory support and difficulty in establishing feeds. Early postnatal peritoneal dialysis (PD) is required in up to 25%, and dialysis efficiency can similarly be compromised. In these situations, unilateral or bilateral nephrectomy may be recommended. All previous reports of nephrectomy in ARPKD have described an open approach, generally via a transperitoneal route, with the risk of compromising future PD. Here, we demonstrate laparoscopic-assisted retroperitoneal nephrectomy (LARN), which has been used successfully in two patients. PATIENTS AND RESULTS: Case 1: a 37/40, 3.2 kg female infant. She was extubated to CPAP d6 and commenced haemodialysis d7. Left LARN was performed d34 and CPAP was discontinued within 48 h. Right LARN was performed d49 as it was felt PD still would not be possible and PD was then successfully commenced d62. She unfortunately died aged 11/12. Case 2: a term 3.5 kg male infant. He was ventilator-dependent and required PD catheter insertion on d1. PD was discontinued for leakage d7, and haemodialysis commenced. Left LARN was performed d18. He remained ventilator-dependent and given this, and the PD leakage, right LARN was performed d20. He was extubated 48 h later, and PD successfully reintroduced after 1 week. He is currently aged 4/12. CONCLUSION: LARN is achievable in ARPKD. Although unilateral LARN may be sufficient, in these cases bilateral LARN was required. Relief of the mass effect allowed respiratory support to be discontinued and peritoneal dialysis to be established in both children.

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

BACKGROUND AND OBJECTIVES: Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations in these two genes on disease severity in a United Kingdom cohort. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Prevalent patients were studied from 2012 to 2014 in the northeast and southwest of the United Kingdom. Clinical phenotypes were defined, and genetic analysis of SLC3A1 and SLC7A9 combining Sanger sequencing and multiplex ligation probe-dependent amplification was performed. RESULTS: In total, 76 patients (42 men and 34 women) were studied. All subjects had proven cystine stones. Median age of presentation (first stone episode) was 24 years old, but 21% of patients presented after 40 years old. Patients had varied clinical courses, with 37% of patients having ≥10 stone episodes; 70% had evidence of CKD, and 9% had reached ESRD as a result of cystinuria and its complications. Patients with cystinuria received a variety of different therapies, with no obvious treatment consensus. Notably, 20% of patients had staghorn calculi, with associated impaired renal function in 80% of these patients. Genetic analysis revealed that biallelic mutations were present in either SLC3A1 (n=27) or SLC7A9 (n=20); 22 patients had only one mutated allele detected (SLC3A1 in five patients and SLC7A9 in 17 patients). In total, 37 different mutant variant alleles were identified, including 12 novel mutations; 22% of mutations were caused by large gene rearrangements. No genotype-phenotype association was detected in this cohort. CONCLUSIONS: Patients with cystinuria in the United Kingdom often present atypically with staghorn calculi at ≥40 years old and commonly develop significant renal impairment. There is no association of clinical course with genotype. Treatments directed toward reducing stone burden need to be rationalized and developed to optimize patient care.

Isolated preputial reconstruction in distal hypospadias.

OBJECTIVE: The aim of this single centre study was to determine: a) the outcome of isolated preputial reconstruction in distal hypospadias and b) overall parental satisfaction. METHODS: A retrospective analysis of case notes was performed to determine outcome. Postal parent-satisfaction questionnaires were devised to quantify subjective assessment of care and outcome. RESULTS: A total of 33 cases of isolated preputial reconstruction were identified between 2006 and 2012. Three sets of notes were untraceable. The median age of the 30 remaining patients at surgery was 23 months (range 11-119). At follow-up, 28 (94%) patients had retractile foreskins that had healed well. One patient (3%) had a foreskin fistula and the parents chose to proceed with circumcision rather than fistula closure. A second patient (3%) developed late phimosis secondary to balanitis xerotica obliterans and also underwent circumcision. Twelve follow-up questionnaires were returned. The median overall success rating of the operation was 4.7/5.0 (94%). All respondents reported that they would recommend the procedure to another parent whose child has a similar diagnosis. CONCLUSION: Isolated preputial reconstruction improves the cosmetic appearances in distal hypospadias, has a low complication rate and offers high parental satisfaction.

Colostomy for treatment of functional constipation in children: a preliminary report.

OBJECTIVES: Surgery is indicated in very few children with intractable functional constipation. A number of operations have been described with unpredictable outcome and significant morbidity. The authors present a series of 10 children who underwent a Hartmann procedure with end colostomy formation. METHOD: Preoperative management, in addition to maximum conservative measures, included psychologic referral, rectal biopsy, transit studies, and contrast enemas. A standard Hartmann procedure was performed with on-table rectal washout, formation of a proximal sigmoid colostomy, limited anterior resection of hypertrophic proximal rectosigmoid, and oversewing of the rectal stump. RESULTS: The series includes 10 pediatric patients (4 female, 6 male), in whom constipation was first reported at a median age of 3 years (range, 2 months-7 years) and surgical referral was made at 8 years (range, 1-14 years). Surgery was performed at a median age of 9.5 years (range, 2-15 years), and the median postoperative stay was 5 days (range, 4-9 days). Complications occurred in four patients (transient mild rectal discharge in 2, stomal prolapse in 1, and an unrelated small bowel obstruction in 1 patient with an additional Mitrofanoff stoma). Median postoperative follow-up was 31 months (range, 9-56 months), and the children and parents were all completely satisfied with the stoma. CONCLUSION: Colostomy formation is a potential surgical option for severe functional constipation with low associated morbidity and high patient satisfaction.

Localization and endothelin-3 dependence of stem cells of the enteric nervous system in the embryonic colon.

BACKGROUND/PURPOSE: The aganglionosis in a variable length of the distal gut found in Hirschsprung's disease results from the abnormal prenatal development of neural crest-derived stem cells of the enteric nervous system. The cytokine endothelin-3 is necessary for successful colonization of the distal gut, but the location of this interaction with neural crest-derived stem cells remains to be established. The hypothesis tested here is that the stem cells of the enteric nervous system (ENS) in the colon are located at the leading edge of the migrating wave of neural crest-derived stem cells and that these cells require colonic endothelin-3 for complete colonization of the gut. METHODS: Explants of 11.5-day-old embryonic intact mouse gut and isolated colon were cultured for 72 hours in the presence and absence of the endothelin-B receptor antagonist, BQ788. Specimens then were sectioned and stained by immunohistochemistry to assess enteric nervous system development. RESULTS: Isolated colon contained a very low number (mean, 73 cells; range, 37 to 106; n = 8) of neural crest-derived stem cells, which had just entered its proximal end at the leading edge of neural crest cell migration. After 72 hours of culture, progeny of these few neural crest-derived stem cells had colonized the colon at an equivalent ganglionic density to those in intact gut. Furthermore, neuronal differentiation, as shown by the appearance of nitric oxide synthase positive neurons, also was equivalent to intact gut. Blockade of the endothelin-B receptor produced terminal aganglionosis in both isolated colons and intact gut. CONCLUSIONS: The very small number of cells that first enter the proximal colon at the leading edge of neural crest cell migration have the ability to colonize the entire colon normally in an ET-3-dependent manner. These cells therefore have the functional characteristics expected of the stem cells of the colonic enteric nervous system. Furthermore, the normal development of these cells is dependent on the endothelin-3 expressed by the mesenchymal cells of the colon itself.

Analysis of the effects of endothelin-3 on the development of neural crest cells in the embryonic mouse gut.

BACKGROUND/PURPOSE: Mutations in the endothelin-3 (ET-3) and endothelin-B receptor (EDNR-B) genes cause terminal colonic aganglionosis in mice and are linked to Hirschsprung's disease. These experiments are designed to determine if the development of terminal enteric ganglia depends on changes in proliferation, apoptosis, or differentiation of enteric neural crest (NC) cells in response to ET-3. METHODS: Gut from embryonic lethal-spotted mice (lacking ET-3) and controls were investigated in vivo. NC-derived cells were identified immunohistochemically and their proliferation, apoptosis and differentiation monitored by bromodeoxyuridine incorporation, the terminal deoxytransferase poly dU nick end labelling (TUNEL) reaction, and appearance of neuronal nitric oxide synthase (NOS), respectively. RESULTS: No differences in apoptosis or proliferation of NC cells were apparent between lethal-spotted embryos and controls. Although no temporal differences in the differentiation of NOS neurones were evident, these cells appeared more cranially in the gut in the absence of ET-3 than in controls. CONCLUSIONS: ET-3 has no detectable influence on proliferation, apoptosis, or timing of differentiation of NC-derived cells in the gut. However, the more proximal location of differentiated neurones in the absence of ET-3 is consistent with a restricted role in migration of NC-derived cells.