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The Prune Belly Syndrome: Urological Aspects and Long-Term Outcomes of a Rare Disease

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The Prune Belly Syndrome: Urological Aspects and Long-Term Outcomes of a Rare Disease Pediatric Reports 2012; volume 4:e20 The Prune Belly syndrome: affecting almost exclusively males (>95%), and characterized by a triad of clinical features Correspondence: Apostolos P. Labanaris, Prostate urological aspects and including urinary tract anomalies, abdominal Center Northwest, Department of Urology and long-term outcomes wall deficiency and bilateral cryptorchidism. Pediatric Urology, St. Antonius Medical Center, of a rare disease Nowadays, not as many children with PBS are Moellenweg 22, 48599 Gronau, Germany. seen in clinical practice as in the past, mainly Tel. +49.2562.915.7114 - Fax: +49.2562.915.2105. E-mail: [email protected] Vahudin Zugor,1 Günter E. Schott,2 due to prenatal ultrasound and subsequent pregnancy termination of affected cases. Apostolos P. Labanaris1 Key words: Prune-Belly syndrome, diagnosis, The protruding hypoplastic abdominal wall therapeutic options, surgical treatment. 1Department of Urology and Pediatric looks like a dried prune, hence the name Urology-Prostate Center Northwest, 1-5 Prune-Belly. However, abortive forms are Received for publication: 30 May 2011. St. Antonius Medical Center, Gronau; often also presented in which hypoplasia of the Revision received: 17 November 2011. 2Deparment of Urology, University of abdominal wall is not particularly severe. Accepted for publication: 18 November 2011. Erlangen Medical Center, Erlangen, Malformations of the urinary tract are due to This work is licensed under a Creative Commons Germany dysplasia of the smooth muscles of the renal Attribution NonCommercial 3.0 License (CC BY- pelvis and of the ureters, as well as of the pro- NC 3.0). static part of the urethra. Depending on type and severity, the syndrome presents with three ©Copyright V. Zugor et al., 2012 Abstract different clinical manifistations: i) the non- Licensee PAGEPress, Italy viable oliguric form with severe kidney dyspla- Pediatric Reports 2012; 4:e20 sia; ii) a serious form consisting of marked doi:10.4081/pr.2012.e20 Prune-Belly syndrome is a disorder charac- renal dysplasia, with mega-ureters, mega-vesi- terized by the following triad of symptoms: cles, and progressive renal failure; and iii) the deficiency of the abdominal muscles, malfor- more favorable form with moderate renal dys- mations of the urinary tract and bilateral cryp- (86.7%) and 2 female (13.3%) patients. plasia and different degrees of enlargement of Survival rate after ten years was 93.7%. At the torchidism. This study included a total of 16 1,3,5 only the ureters and bladder. time of diagnosis, average age was 7.4 years patients. The findings included clinical charac- Prune-Belly syndrome is a complex malfor- teristics, diagnostics, therapy and long-term and median age 9.3 years. The youngest mation disorder with wide variability in sever- patient was 1.2 years old and the oldest 12.9 clinical outcomes. All patients were asked to ity and clinical manifestations. A thorough years old. Mean follow-up time was 17 years. complete a questionnaire and, in some cases, examination, usually as regular follow-upusePrune-Belly syndrome had been clinically con- were given further examination. All patients analyses, should establish the diagnosis and firmed in all patients. All children had been were diagnosed with congenital aplasia of the determine the perinatal management. This diagnosed with congenital aplasia of the abdominal wall and a variety of urogenital mal- diagnosis should be considered when prenatal abdominal wall and a variety of urogenital mal- formations. Cryptorchidism was present in 11 abdominal wall deficiencies have been con- formations. Cryptorchidism was present in 11 patients (68.8%), malformations of the 6,7 firmed. children (68.8%), malformations of the prostate in 3 (18.8%), urethral malformations The purpose of this study is to present our prostate in 3 (18.8%), urethral malformations in 8 (50%) and mega-ureter in 14 patients clinical experience with children proven to have in 8 (50%) and mega-ureter in 14 (87.5%) chil- (87.5%). A mega-bladder was observed in 13 Prune-Belly syndrome, as well as to outline the dren. A mega-bladder was observed in 13 chil- patients (81.3%). Distinctive renal malforma- surgical treatment options that can be used. dren (81.3%). Distinctive renal malformations, tions, such as renal dysplasia, in 3 patients such as renal dysplasia in 3 children (18.8%) (18.8%) and hydronephrosis in 9 patients and hydronephrosis in 9 children (56.3%) (56.3%), respectively. Abdominoplasty was per- (Table 1). Other related malformations, such formed on 4 patients (25%). Urethral surgery Materials and Methods as atrial septum defect (ASD), patent ductus was performed in 10 patients (62.5%). Seven arteriosus (PDA), spina bifida occulta and patients (43.8%) required ureter surgery, most All clinical records of patients with Prune- club-foot were found in a total of 5 children of which involved re-implantation of theNon-commercial ureter Belly syndrome who were treated at the (31.2.%) (Table 1). and, in some cases, additional ureter model- Erlangen Pediatric Urology department These patients did not receive homoge- ing. Renal surgery was performed on 5 between 1970 and 2006 were again analyzed neous treatment and they were treated over patients. Four patients with non-functioning retrospectively. Questionnaires were sent out different time periods. Our methodology was kidneys with hydronephrosis underwent a to all patients, some of whom (7 children) often individually targeted, geared towards nephrectomy and one patient pyeloplasty. We underwent further examination. Statistical treating the clinical symptoms and congenital demonstrate that successful treatment is pos- analysis was carried out with the SPSS pro- urogenital malformations according to severity sible even in cases of serious and complex gram. A total of 16 patients were included in and form. Abdominoplasty was performed in 4 malformations, such as those of the Prune- the study. Findings cover clinical characteris- children (25%). Urethral surgery was per- Belly syndrome. Treatment must be tailored to tics, diagnostics, therapy, and long-term clini- formed in 10 children (62.5%). We first carried the individual patient. The severity of the renal cal outcome. out a variety of endoscopic procedures in order dysplasia is the main prognostic factor. to ensure a regular urine flow (in 50% of cases). Open urethral surgeries, such as ure- thralplasty and correction of epispadia, were Results performed in 2 children (12.6%). Bladder sur- Introduction gery was necessary in 10 children (62.5%); The sample population consisted of 16 bladder reduction surgery was the most com- Prune-Belly syndrome (PBS) is a rare mal- patients in whom Prune-Belly syndrome had mon procedure performed (31.3%) (Table 2). formation disorder (1 in 40,000 live births), been clinically verified. There were 14 male Seven children (43.8%) had to undergo ureter [page 78] [Pediatric Reports 2012; 4:e20] Article surgery, mostly including ureter re-implanta- Table 1. The clinicopathological character- Table 2. Urological surgical procedures. tions and in some cases additionally ureter istics. N. % modeling. Five of the 11 children with cryp- N. % torchidism had to undergo orchidopexy (31.3% Urethral surgery 10 62.5 of patients) which in every case was via an Sex Urethroplasty 1 6.3 inguinal incision. One patient developed a Male 14 87.5 Internal urethrotomy 4 25.0 seminoma at an adult age, and an inguinal Female 2 12.5 Atrioventricular valve fulguration 2 12.6 orchiectomy was performed, followed by post- Age when diagnosed Epispadias correction 1 6.3 surgical radiotherapy. We performed renal sur- Minimum 1.2 Meatotomy 1 6.3 gery in 5 children. Four children who had non- Median 9.3 Shincterotomy 1 6.3 functioning kidneys with hydronephrosis Maximum 12.9 Ureter surgery 7 43.8 underwent a nephrectomy and one patient Other congenital malformations Cutaneous ureterostomy 1 6.3 pyeloplasty. Four children who had developed Yes 5 31.2 Ureterocystoneostomy 5 31.3 terminal renal insufficiency which required ASD, atrial septum defect 1 6.3 Sober 1 6.3 None 9 56.3 dyalisis treatment underwent a kidney trans- Funnel chest (pectus excavatum) 1 6.3 plant. These children now have stable kidney Spina bifida occulta 1 6.3 Testicular surgery 6 37.5 Club-foot 1 6.3 function. Two children (12.6%). developed Orchidopexy 5 31.3 Funnel chest 1 6.3 Inguinal orchiectomy 1 6.3 postoperative complications (urethral fistula No 11 68.8 None 10 62.5 and extravasation). A suprapubic catheter was Treatment inserted temporarily in 14 children. One child Bladder surgery 10 62.5 Surgical 16 100 Hemicystectomy 5 31.3 died from pulmonary hypoplasia and an Conserative 00Hemicystectomy YV-plastic 1 6.3 advanced stage of renal insufficiency. Congenital urological Young-dees bladder neck 1 6.3 malformations Reconstruction Abdominal wall aplasia 15 93.8 TUR bladder neck resection 2 12.6 Cryptorchidism 11 68.8 onlyCystostomy 1 6.3 Discussion Malformations of the prostate 3 18.8 Renal surgery 5 31.3 Urethral malformations 8 50 Nephrectomy 4 25 Although many theories have been put forth Mega-bladder 13 81.3 Pyeloplasty 1 6.3 regarding the embryonic origin of Prune-Belly Mega-ureter 14 87.5 None 11 68.8 syndrome, it has not been possible to deter- Renal dysplasia 3use 18.8 Suprapubic catheter 14 87.4 Hydronephrosis 9 56.3 mine the original factors causing this complex Kidney transplant 4 25 anomaly. Etiologically, it is a mesenchymal Surgical procedures developmental arrest during the 6th to 10th Urethral surgery 10 62.5 week of gestation.3 The morbidity rate is Bladder surgery 10 62.5 approximately 1:40,000 births.5-16 Ninety-five Testicular surgery 6 37.5 Renal surgery 5 31.2 percent of cases affect male children and 5% Ureter surgery 7 43.8 affect girls who usually do not exhibit the char- Abdominoplasty 4 25 acteristic urogenital dysplasia nor, of course, cryptorchidism.
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