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17 Urological Problems in Children with Anorectal Malformations

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17 Urological Problems in Children with Anorectal Malformations 269 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 fistula, 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 rectum 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 embryos de- 17.6.1 Male . 275 velopment at a critical time during early gestation can 17.6.1.1 Penis 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- Cloaca 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 disease 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].
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