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17 Urological Problems in Children with Anorectal Malformations

Duncan T. Wilcox and Stephanie A. Warne

Contents is a known feature of both the VATER (acronym of Vertebral and vascular anomalies, Anal atresia, Tra- 17.1 Introduction . . . 269 cheoesophageal , Esophageal atresia, and Renal 17.2 Renal Anomalies . . . 270 anomalies, Radial dysplasia) and VACTERL (acro- 17.2.1 Structural . . . 270 nym of Vertebral abnormalities, Anal atresia, Cardiac 17.2.1.1 Position . . . 270 defects, Tracheoesophageal fistula with Esophageal 17.2.1.2 Duplication . . . 270 atresia, Radial and renal defects, and Lower-limb ab- 17.1.2.3 Hydronephrosis . . . 270 normalities) associations [40,56]. These children can 17.2.1.4 Renal Dysplasia . . . 271 17.2.1.5 Renal Agenesis . . . 271 have both structural and functional abnormalities of 17.2.2 Functional . . . 271 the upper and lower urinary tract as well as significant 17.3 Ureteric Anomalies . . . 272 genital anomalies [37]. Anomalies of the genitouri- 17.3.1 Vesicoureteric Reflux . . . 272 nary tract can have a dramatic impact on the length 17.3.2 Megaureters . . . 272 and quality of these children’s lives [27]. 17.3.3 Ureteric Ectopia . . . 272 Genitourinary anomalies occur frequently in pa- 17.4 Bladder Anomalies . . . 273 tients with ARM and previous retrospective reviews 17.4.1 Structural . . . 273 report incidences from 20 to 50% [27,28,36,41,54,55]. 17.4.2 Functional . . . 273 In one large series from Japan consisting of 1,992 17.4.2.1 Preoperative . . . 273 patients, 425 had genitourinary problems [16]. This 17.4.2.2 Postoperative Urinary Continence . . . 274 association is easily understood when one considers 17.4.2.3 Bladder Physiology . . . 274 that the embryological development of the 17.4.2.4 Management of Urinary Incontinence . . . 274 and genitourinary tract develop simultaneously and 17.5 Urethral Problems . . . 275 in close proximity [10]. A common embryological 17.6 Genital Anomalies . . . 275 insult affecting the caudal portion of the de- 17.6.1 Male . . . 275 velopment at a critical time during early gestation can 17.6.1.1 and Urethra . . . 275 cause a spectrum of defects in the anorectal, genital, 17.6.1.2 Testicles and Scrotum . . . 275 urinary, and spinal tract [26,32,47]. 17.6.1.3 Epididymis, Vas, and Ejaculatory Ducts . . . 276 Overall, approximately 40% of patients have a uri- 17.6.2 Females . . . 276 nary tract anomaly and 10% have a genital anomaly 17.7 Management Suggestions . . . 276 (Table 17.1) [27,28,30,41]. Historical studies have 17.7.1 Initial Evaluation . . . 276 used different classification systems; in this chapter 17.7.2 Postreconstruction Evaluation . . . 276 it has only been possible to compare reports using 17.7.3 Long-Term Evaluation . . . 277 References . . . 277 the “high, intermediate and low” definitions. In ad- dition, female patients with cloacal anomalies will be considered separately. The incidence of urinary anomalies increases according to the severity of the anorectal lesion [28,37,42] and is shown in Table 17.2. 17.1 Introduction The incidence of an associated genitourinary anom- aly also increases when a lumbosacral defect is pres- The importance of investigating and treating the uri- ent [28,37,42]. nary tract in patients born with anorectal malforma- Genital maldevelopment is less frequent, but still a tions (ARM), has until recently been underempha- significant problem. Interestingly, those patients with sized [5]. This is surprising as the association between a urinary anomaly are more likely to have a genital urological anomalies and ARM is well described and tract problem (26%) compared with those without a 270 Duncan T. Wilcox and Stephanie A. Warne

Table 17.1 Incidence of genitourinary anomalies related to 17.2 Renal Anomalies type of ARM Anorectal malformation Fistula level Associated genitourinary The majority of anomalies associated with the kidney malformation and ureter have been described in patients with ARM. % This review will outline those seen and the manage- 88 ment of these problems. Bladder neck 92 Prostatic urethra 66 17.2.1 Structural Vestibular 30 Bulbar urethra 25 17.2.1.1 Position Perineal 0 Kidneys placed ectopically have been well described No fistula 25 [27,28,30,41]. Kidneys can either be single and ectop- ically positioned (i.e., pelvic) or can be joined. Join- ing of the kidneys can either be midline (horseshoe kidney; Fig. 17.1) or joined both on the same side (crossed fused ectopia; Fig. 17.2). Renal ectopia oc- urinary defect (14%) [28]. However, a genital anom- curs in approximately 5% of patients and renal fusion aly is much better at predicting a urinary problem, as in 5% [27,28]. These patients do not need specific 55% of these patients have both [28]. management of these renal problems; however, they The incidence of genitourinary problems depend- do predispose to urinary tract infections and to vesi- ing on the sex of the patient is confusing. In their early coureteric reflux, which needs to be considered. series, Metts et al. showed clearly that boys had more problems than girls (50% versus 30%), and this dif- ference continued to be significant even when the se- 17.2.1.2 Duplication verity of the abnormality was considered [28]. Ratan, however, showed the opposite, with girls more fre- Renal duplication, either partial or complete, is seen quently affected [40]. McLorie and Warne identified in between 2 and 5% of patients [28,30]. The manage- no significant difference between the sexes for renal ment of these patients is the same as those without abnormalities [27,41,51 52]. ARM. An ectopic ureter associated with an upper This chapter will outline the structural and func- pole moiety must be considered as a cause of inconti- tional anomalies seen in the genitourinary tract and nence in these children. describe the abnormalities seen according to the se- verity of the underlying ARM. In addition, the poten- tially adverse effects of surgical reconstruction on the 17.1.2.3 Hydronephrosis urological outcome will be discussed. Finally, a sug- gested outline for the evaluation of these patients will The incidence of hydronephrosis varies greatly be- be proposed. tween the series reported in the literature. Hydrone-

Table 17.2 Genitourinary anomalies according to severity of the ARM [28] Abnormality ARM Boys ARM Girls Cloaca Total n = 21 n = 12 n = 12 n = 45 Abnormal sacrum 10 (48%) 5 (42%) 6 (50%) 21 (47%) Abnormal spinal cord 2 (9%) 4 (33%) 5 (42%) 11 (24%) Abnormal kidneys 11 (52%) 3 (25%) 3 (25%) 17 (38%) Vesicoureteric reflux 6 (29%) 3 (25%) 1 (8%) 10 (22%) Abnormal genitalia 11 (52%) 1 (8%) 12 (100%) 24 (53%) Abnormal urodynamics 13 (62%) 6 (50%) 10 (75%) 29 (64%) 17 Urological Problems in Children with Anorectal Malformations 271

Fig. 17.1 Intravenous urogram showing a horseshoe kidney Fig. 17.2 Intravenous urogram showing a right-crossed, fused, ectopic kidney

phrosis was the most common problem identified in 17.2.1.5 Renal Agenesis the renal tract by Ratan and colleagues, but in other series the rate is between 2 and 10% [41]. In most se- Unilateral renal agenesis is a common problem, it ries hydronephrosis is used to refer to a uretero-pelvic is reported in 3–5% of children with low anoma- junction impairment to urine flow. The management lies and up to 20% of patients with high anomalies of these patients has not been specifically discussed; [27,28,30,42]. the general approach is prophylactic antibiotics and observation, with approximately 25% requiring sur- gical reconstruction [14]. Surgical reconstruction is 17.2.2 Functional needed in those patients with an increasing hydro- nephrosis, deteriorating renal function, or symptoms Studies looking at renal function in prospective co- [14]. horts of patients with ARM have not been reported. Patients with chronic renal failure (defined as a glo- merular filtration rate, GFR - corrected for surface 17.2.1.4 Renal Dysplasia area- of less than 80 ml/min) have been described in both low and high anomalies. Misra described 4 of 95 Renal dysplasia is seen in patients with both low and patients who had chronic renal failure; the underly- high ARM [27,30]; the incidence varies from 2 to 8%. ing diagnosis was bilateral renal dysplasia, bilateral The diagnosis of dysplasia has been made in a vari- vesicoureteric reflux, and neuropathic bladder. One ety of ways including pathological specimens and by of these patients required renal transplantation before nuclear renography. The latter technique is not as ac- 18 years of age [30]. The incidence of chronic renal curate. In addition to dysplasia, patients with ARM failure in patients with high lesions is not well docu- may also have a multicystic dysplastic kidney, which mented, but between 2 and 6% of these patients die is nonfunctioning. This abnormality appears less from renal insufficiency, compared with 1.1% with commonly, in about 1–3% of patients [27,30]. The low lesions [27]. The management of chronic renal importance of dysplasia and renal agenesis cannot be failure and end-stage in children with ARM overlooked, as chronic renal failure is one of the ma- raises specific challenges. Peritoneal dialysis and sub- jor causes of mortality in these patients [27]. sequent renal transplantation can be technically de- 272 Duncan T. Wilcox and Stephanie A. Warne

Table 17.3 The incidence of urinary tract anomalies in 64 pa- tion appears to depend entirely upon the number tients with a persistent cloaca of patients who undergo a diagnostic micturating Urinary tract anomalies Number % cystogram to detect reflux. In a cohort who all had cystograms, 33% presented with reflux; however, this Bilateral renal dysplasia 15 23 represented a selected group [27]. In a prospectively Unilateral renal dysplasia 2 3 studied group, 10 out of 45 (22%) had vesicoureteric Solitary kidney (dysplastic) 8 13 reflux; 4 of these (9%) had structurally normal up- Pelviureteric junction obstruction 4 6 per tracts at presentation. All grades of reflux have Bilateral duplex 6 9 been described: in 1996, Boemers et al. reported that 27% of their cohort had reflux; of the 24 patients (37 Horseshoe kidney 1 3 kidneys) with reflux, 6 were grade I, 4 were grade II, Pelvic kidney 4 6 5 were grade III, 9 were grade IV, and 3 were grade Crossed fused ectopia 4 6 V [3,4]. This suggests that higher-grade reflux is seen Hydronephrosis 10 16 than in patients with primary vesicoureteric reflux; however, large series have not been well reported and Ureterocele 1 2 an association between reflux with and that without a Patent urachus 1 2 neuropathic bladder has not been documented. Bladder diverticulum 2 3 The management of reflux follows the same princi- Bladder atresia 3 5 ples as all patients with primary reflux. In 18 patients with reflux, 10 spontaneously improved, 3 are still be- ing observed, and 5 had the reflux corrected [30]. Nei- ther the initial grade of reflux nor the indication for manding due to the previous abdominal operations. surgical treatment, however, was mentioned. Division In addition, those patients who go on to renal trans- of the rectourinary fistula and subsequent decrease in plantation need specific attention to exclude neuro- bacterial contamination frequently leads to resolution pathic bladder, which could continue to damage the of lower grades of reflux [9,43]. This report and oth- new kidney. ers, suggest that a policy of observation and expectant In a recent long-term outcome review of 64 clo- management is appropriate for these patients. aca patients, an abnormality of the kidneys, ureters, and bladder was identified in 83% at presentation (Table 17.3) [52]. Other authors also describe a simi- 17.3.2 Megaureters larly high incidence of genitourinary abnormalities in girls with persistent cloaca [20,21,42]. Bilateral renal Megaureters are rarely observed (approximately 1– dysplasia and dysplasia of a solitary or cross-fused 3%) [28,30]. As with hydronephrosis, a policy of pro- ectopic kidney was diagnosed in the early neonatal phylactic antibiotics and observation is appropriate. period, with abnormal renal function on presenta- The necessity for surgical reconstruction is not well tion in 15 (23%). At an average age of 11 years, 50% of reported. the group had developed chronic renal failure (with GFR < 80 ml/min/1.73 m2). This was severe or end- stage renal failure in 17% (with GFR < 25 ml/min/ 17.3.3 Ureteric Ectopia 1.73 m2). Six patients (9%) required renal transplan- tation. One died posttransplantation from renal Ureteric ectopia is a rare clinical entity. It is associated thrombosis in the grafted kidney. A further three pa- with complete ureteric duplication in 80% of cases. tients died as a consequence of renal failure, giving an Single system ureteric ectopia usually presents with overall mortality rate of 6% from renal failure [52]. persistent urinary incontinence and hydroureterone- phrosis and is more frequently seen in patients with cloacal anomalies (A. Trainer, personal communica- 17.3 Ureteric Anomalies tion) [51]. It is associated with a renal abnormality such as horseshoe kidney, crossed-fused renal ecto- 17.3.1 Vesicoureteric Reflux pia, malrotated kidney, renal dysplasia, and pelvic kidney. Surgical options to correct this condition usu- The reported incidence of vesicoureteric reflux var- ally include ureteric reimplantation and procedures ies greatly from 2 to nearly 50% [27,41]. The varia- to increase bladder outlet resistance. 17 Urological Problems in Children with Anorectal Malformations 273

Table 17.4 Urodynamic findings in a prospective cohort of patients with an ARM according to fistula position. NFU Abn Abnor- mality found on natural filling urodynamics DO detrusor overactivity, M male, F female Cloaca Vesical fistula High, no fistula Urethral fistula Vestibular fistula n* 12 5 4 12 10 Gender F M 2M, 2F M F Normal 2 (17%) 0 0 6 (50%) 6 (60%)

NFU Abn 10 (83%) 5 (100%) 4 (100%) 6 (50%) 4 (40%) Idiopathic DO 3 0 1 2 1 Neurogenic DO 7 2 1 4 2 Asynchronous 0 0 2 0 1 Inadequate 0 3 0 0 0

17.4 Bladder Anomalies years of life, focuses primarily on construction of a new anus and to restore continuity to the gastrointes- 17.4.1 Structural tinal tract [37,38]. Bladder dysfunction can easily be overlooked and is difficult to evaluate since surgical Structural abnormalities of the bladder occur infre- reconstruction is performed at an age where the ma- quently in patients with ARM. However, be- jority of patients have not reached the age to achieve tween the rectum and bladder or bladder neck occur urinary continence. in around 10% of all ARM and represent the most Recently, De Gennaro and colleagues described complex malformations in males [37,42]. The bladder a 4-h voiding observation in infants and observed is absent in up to 8% of female infants with a persis- that 50 out of 89 patients (55%) had abnormal blad- tent cloaca; in these patients it is associated with bilat- der function. In the neonates, five out of nine had in- eral, single-system ectopic ureters [51]. complete voiding [32]. This compares well with the overall incidence of bladder dysfunction as assessed by urodynamics, which is between 7 and 30% [4,49]. 17.4.2 Functional The majority of children with bladder dysfunction had abnormal spines, 88% in a recent series [32]. The etiology of lower urinary tract dysfunction in However, there are multiple reports of ARM patients ARM and cloacal anomalies is poorly understood with abnormal bladder function with a normal bony [2–4,50,51]. However, bladder dysfunction causes sacrum [32,49]. Therefore it is not possible to use spi- significant urological morbidity in the pediatric nal radiography alone as the investigation to exclude population, resulting in renal damage from recurrent spinal dysraphism or spinal cord lesion and potential urinary tract infections and urinary incontinence, neurogenic bladder in ARM patients. Ultrasound and both of which can cause profound morbidity and magnetic resonance imaging (MRI) are comparable disability [7]. Recurrent urinary tract infection may in depicting the presence or absence of intraspinal be overlooked or attributed to coexisting vesicoure- [44,48]. Spinal ultrasound provides rapid teric reflux or renal anomalies, which are prevalent information on the bony sacrum, the spinal cord, fi- in a high proportion of these children [7,27]. Conse- lum terminale, and overlying soft tissue [15,49] and quently, detecting bladder dysfunction at an early age is a useful screening investigation during the first is essential in avoiding deterioration in renal function 3 months of life. MRI delineates the specific nature of [5,18,24,45,46]. the spinal abnormalities more clearly [1] and is the modality of choice in older children, or where ultra- sound has failed. 17.4.2.1 Preoperative The incidence of neurogenic bladder increases with the severity of the underlying ARM. Mosiello and col- In newly diagnosed ARM and cloacal malforma- leagues observed a neurogenic bladder in 8 out of 39 tions, surgical and medical treatment, for the first few patients with low lesions, 18 out of 45 patients with 274 Duncan T. Wilcox and Stephanie A. Warne

Fig. 17.3 Urodynamic tracing in a patient with an anorectal malfor- mation. The bottom line represents the detrusor pressure. Marked in- stability, indicative of a neuropathic bladder, can be clearly seen. Pabd Abdominal pressure, Pves vesicular pressure, Pdet detrusor pressure

high lesions, and all 5 cloaca patients [32]. This was struct ARM [2,4,8,11,55]. In prospective series, the confirmed by Warne, who prospectively studied a incidence of new neurological damage following group of 45 ARM patients by natural filling urody- PSARP for anorectal malformations varies between 5 namics and found that 58% of ARM patients and 83% and 10% [2,49]. However, the rate of change is much of cloaca patients had bladder dysfunction on pre- greater in patients with a cloacal anomaly who un- sentation (Table 17.4, Fig. 17.3) [49]. The high rate of dergo reconstruction using PSARP and total urogeni- bladder dysfunction in this series may be explained by tal mobilization, with 50% showing deterioration in the predominance of high lesions, and the incidence bladder function [50]. The bladder tended to change of bladder dysfunction increases with the severity of from an unstable bladder to a denervated, low-pres- the ARM. These data suggest that a neurogenic blad- sure, high-capacity bladder [49]. This change was der can be seen in all varieties of patients with ARM, more commonly noted when the length of the com- either with or without an abnormal spine [32]. mon channel was greater than 3 cm. This change is supported by the high incidence of patients requir- ing postoperative catheterization observed by Peña 17.4.2.2 Postoperative Urinary Continence [37]. The deterioration in bladder function following may be partially due to the pelvic autonomic The rate of urinary incontinence varies greatly in the plexus lying more midline and in close proximity to literature depending on the severity of the original the fistula in these children than in those without ARM and on the definitions used to describe con- ARM [13]. tinence. Overall incontinence rates in the literature Constipation may also contribute to abnormal blad- vary from 10% up to 25% [3,4,37]. Rintala reviewed der function. More recently, Warne and colleagues continence in adult high and intermediate ARM pa- observed that in 12 of 45 patients a wave of peristalsis tients with mean age of 35 years and reported urinary could initiate an abnormal bladder contraction. This incontinence in 33%, which greatly affected their work suggests that there is a direct link between bowel quality of life [12]. The rate of incontinence in girls motility and urinary incontinence. born with a cloacal anomaly can approach 60–70% [37,50]. 17.4.2.4 Management of Urinary Incontinence

17.4.2.3 Bladder Physiology Unlike , urinary incontinence im- pacts on other systems. Incontinence caused by Denervation of the lower urinary tract has been ob- a neurogenic bladder may be associated with recur- served following posterior sagittal anorectoplasty rent urinary tract infections and vesicoureteric reflux. (PSARP) and with other techniques used to recon- This combination can result in ongoing damage to the 17 Urological Problems in Children with Anorectal Malformations 275 kidneys, resulting in renal failure [27]. Consequently, 17.6.1.1 Penis and Urethra the early aggressive management of these patients is important to prevent renal damage. The important A penile abnormality has been described in 14–25 factors are to ensure that the bladder is emptied regu- % of male ARM patients [28,42]. Hypospadias is the larly and that the intravesical pressure remains low. most common penile abnormality detected, but chor- Bladder emptying, when necessary, is best performed dee, rotational anomalies of the penis, and epispadias by clean intermittent catheterization (CIC). CIC can are also reported. Megaurethra and ectopic urethra be performed either urethrally or via a Mitrofanoff are uncommon, and penile duplication has occurred stoma [6,24]. In the majority of patients with an ARM in a few patients [28]. the urethra is sensate, consequently urethral CIC can be uncomfortable, especially in the older patient. By starting in the first 3 months of life, Boemers found 17.6.1.2 Testicles and Scrotum a higher compliance rate [6]. Reducing bladder pres- sure should first be attempted medically using anti- Cryptorchidism is a common finding and the inci- cholinergic agents; when this fails, bladder augmenta- dence varies between 10 and 40% of male ARM pa- tion may be necessary. These techniques can be used tients [27,28,42]. McLorie reports that this is more to achieve social continence in many of the patients common in high versus low malformations (27% vs [6]. 7%). A bifid scrotum commonly occurs and is of- ten with the more severe variants of hypospadias. Penoscrotal transposition has also been described 17.5 Urethral Problems (Fig. 17.4) [27].

Posterior urethral valves, megaurethra, and urethral duplication have been reported in association with ARM [28,41]. The most commonly reported ure- thral problems are iatrogenic and include urethral strictures, large diverticula, or remnants of the rectal pouch from incomplete dissection of the rectal fistula at the time of pull-through [8,37]. These complica- tions are now seen less frequently with the develop- ment of PSARP, which allows good visualization of the urethral fistula. Stones may form if a urethral di- verticulum is left, precipitating recurrent infections, and it can be technically difficult to catheterize the urethra in those patients who require CIC for neuro- genic bladder [36,39].

17.6 Genital Anomalies

17.6.1 Male

Among 21 male ARM patients, abnormalities of the genitalia were identified in 11 (52%) [28]. An associ- ated renal abnormality was detected in nine of these boys and in all male patients with hypospadias, bifid scrotum, bilateral undescended testes, or penoscrotal transposition. There were two boys with a unilateral undescended testis who had normal kidneys. The presence of a genital abnormality in boys with ARM appears to be associated with a renal abnormality Fig. 17.4 A patient with penoscrotal transposition and hypo- [28]. spadias 276 Duncan T. Wilcox and Stephanie A. Warne

17.6.1.3 Epididymis, Vas, and Ejaculatory Ducts document these early in life and initiate treatment where appropriate. Ultrasound scan, cystogram, and There is an increased incidence of epididymitis in isotope renogram should therefore be performed in ARM boys and this is seen prior to and after surgical all ARM patients at presentation [5]. In all patients closure of rectourinary fistula [8,35]. The exact mech- with bilateral renal disease, GFR measurement should anism for this is unknown, but abnormalities such be assessed and joint management with as urethral strictures, ectopic ureters, diverticulum specialists may be required. As 50% of cloaca patients at the previous fistula site, and a neurogenic bladder develop renal impairment we would recommend that may all be contributory factors. Ectopia of the vas has all new cloaca patients have a baseline GFR measure- been reported [28], and Wolffian duct abnormalities ment at around 1 year of age [52]. are more common on the same side as renal anoma- Spinal status should be documented before as- lies [23]. The vas and seminal vesicles are prone to iat- sessing bladder function in all new ARM patients. rogenic injury in patients with prostatic and bladder All should have full vertebral radiographs in the an- neck fistulas [11]. Holt et al. reported a high incidence terior–posterior and lateral views, and either spinal of male infertility in adult males treated for ARM. ultrasound or MRI. Spinal ultrasound is useful as a Half of the groups studied were azospermic and there screening tool; however, MRI is the most sensitive was a high incidence of ejaculatory problems [23]. tool with which to detect spinal cord abnormalities This highlights the importance of treating recurrent [1]. If the investigation is performed early in infancy epididymitis, performing early orchidopexy, and re- then sedation may not be necessary. ferring these patients to adolescent for as- There should be a high index of suspicion for blad- sessment in early adult life. der dysfunction in all new ARM patients. This can be investigated by noninvasive bladder function assess- ment, as described by Holmdahl and Mosiello, within 17.6.2 Females the first few months of life [22,32]. This will probably suffice for patients with low malformations, who have Mullerian abnormalities occur in 30–45 % of girls a low incidence of bladder dysfunction. However, with ARM [17,19,30,31]. Cloacal anomalies are char- all other ARM patients, particularly those with high acterized by a confluence of the urethra, , and malformations, persistent cloaca, and those with doc- rectum into a single channel, or persistent cloaca with umented spinal pathology, should have formal urody- a solitary opening on the . This anomaly namics assessment by conventional cystometrogram occurs as a result of a complex defect of perineal de- or natural filling techniques [4,49,57]. velopment, and is associated with maldevelopment of the Mullerian tubercle, sinovaginal bulbs, vaginal plate, and urogenital sinus. The resulting abnormali- 17.7.2 Postreconstruction Evaluation ties show great variation depending on whether the confluence is high or low. Some degree of septation As bladder function does not change following PSARP, of the uterus and vagina, ranging from a partial sep- the urodynamic study can be performed at any time tum in a large vagina with single cervix and uterus during the 1st year of life providing the initial bladder to a completely separated double vagina with double function assessment showed good bladder emptying cervix and uteri, is seen in 60% of cloaca patients and the child does not suffer from urinary tract infec- [25,33,37,53]. tions. In cloaca patients there is a frequent association Abnormalities of the external genitalia are rare, but with bladder dysfunction and as there may be delay hamartomas and hemangiomas of the before cloaca reconstruction, it is recommended that have both been observed. all cloaca patients should be screened using urody- namics within the first few months of life. Since a high proportion of the cloaca group showed deterioration 17.7 Management Suggestions after surgical reconstruction, bladder function should be reassessed again postoperatively by urodynamics 17.7.1 Initial Evaluation [49].

Since around 40% of ARM patients have a structural abnormality of the urinary tract, it is important to 17 Urological Problems in Children with Anorectal Malformations 277

17.7.3 Long-Term Evaluation be misleading. An apparently vestigial uterus may de- velop enough to produce menstrual flow and hence All ARM patients who are diagnosed with a genito- obstruction if the genital tract is not patent [53]. The urinary malformation, spinal cord abnormality, or size and adequacy of the vagina in proportion to the bladder dysfunction on initial assessment, and all size of the child may also appear to have changed at cloaca patients require regular review. Patients with puberty, so it is of utmost importance to reassess the renal abnormalities and vesicoureteric reflux should patient at this stage. have serial ultrasound scans to monitor their renal status. In patients suffering from urinary tract infec- tion, whatever the etiology, a Tc-99m dimercaptosuc- References cinic acid renogram is recommended to diagnose re- nal scarring. 1. Beek FJ, Boemers TM, Witkamp TD, et al (1995) Spine Gynecological abnormalities are common, espe- evaluation in children with anorectal malformations. Pe- cially in cloaca patients [25,30,53], but may remain diatr Radiol 25:S28–32 asymptomatic until puberty or adult life (Fig. 17.5). 2. Boemers TM, Bax KM, Rovekamp MH, van Gool JD All cloaca patients and those with documented Mul- (1995) The effect of posterior sagittal anorectoplasty and lerian and vaginal anomalies should be reassessed and its variants on lower urinary tract function in children monitored in the peripubertal period. Ultrasound with anorectal malformations. J Urol 153:191–193 scan of the pelvis is a useful investigation for screen- 3. Boemers TM, Beek FJ, van Gool JD, et al (1996) Urologic ing [34], whereas an MRI scan is the investigation of problems in anorectal malformations. Part 2: Functional choice to document the complex in these urologic sequelae. J Pediatr Surg 31:634–637 4. Boemers TM, Beek FJ, van Gool JD, et al (1996) Urologic patients, particularly when reconstructive surgery is problems in anorectal malformations. Part 1: Urodynamic necessary [29]. Examination under anesthesia and findings and significance of sacral anomalies. J Pediatr vaginoscopy are also recommended to assess vaginal Surg 31:407–410 patency, adequacy, and the presence of a cervix (cervi- 5. Boemers TM, Beek FJ, Bax KM (1999) Review. Guide- ces). Findings previously documented in infancy may lines for the urological screening and initial manage- ment of lower urinary tract dysfunction in children with anorectal malformations – the ARGUS protocol. BJU Int 83:662–671 6. Boemers TM (1999) Neurogenic bladder in infants born with anorectal malformations: comparison with spinal and urologic status. J Pediatr Surg 34:1889–1890 7. Borzyskowskyi M, Mundy A (1988) The management of neuropathic bladder in childhood Pediatr Nephrol 2:56–66 8. Brock WA, Peña A (1992) Cloacal abnormalities and im- perforate anus. In: Kelais PP, King LR, Belman AB (eds) Clinical Pediatric Urology, 3rd edn. WB Saunders, Phila- delphia, Vol 2, Chap 19, pp 920–942 9. Carson J Barnes P, Tunnell W, et al (1984) : the neurologic implication of sacral abnormalities. J Pediatr Surg 19:838–842 10. Churchill BM, Hardy BE, Stephens CA (1978) Urologic aspects of malformations and common abnormalities of the anus and rectum. Urol Clin North Am 5:141–154 11. Davies M, Kiss A (1994) Intraoperative damage to the male urethra and pelvic visceral during posterior sagittal anorectoplasty. Pediatr Surg Int 9:8–11 12. Davies MC, Creighton SM, Wilcox DT (2004) Long-term outcomes of anorectal malformations. Pediatr Surg Int Fig. 17.5 Magnetic resonance imaging scan showing an ob- 20:567–572 structed uterus presenting as hematocolpos. The bladder, with contrast in it, can be seen anteriorly to the distended uterus 278 Duncan T. Wilcox and Stephanie A. Warne

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