| 1. |
- Andersson, Marie, 1977, et al.
(författare)
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Urological results and patient satisfaction in adolescents after surgery for proximal hypospadias in childhood
- 2020
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Ingår i: Journal of Pediatric Urology. - : Elsevier BV. - 1477-5131 .- 1873-4898. ; 16:5
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Tidskriftsartikel (refereegranskat)abstract
- Background: Proximal hypospadias repair is associated with a considerable complication risk. Long-term follow-up is required to present realistic expectations in pre-operative counseling. Objective: To investigate adolescents after childhood surgery for proximal hypospadias in a prospective cohort study describing the urological outcome, complication rates and patient satisfaction with penile appearance. Study design: 39 adolescents ≥14 years with penoscrotal to perineal hypospadias and primary urethroplasty (tubularized incised plate (TIP), preputial flap as Onlay or tubularized (Duckett)) from 1996 to 2005 at a single center were evaluated. The clinical assessment, at Md 16.5 years (14–25), included voiding history, genital examination including the Hypospadias Objective Scoring Evaluation (HOSE), uroflowmetry plus chart data from previous urinary flows and evaluation of patient satisfaction using the Penile Perception Score (PPS). Results: Twenty-nine patients with penoscrotal and 10 with scrotal/perineal hypospadias underwent surgery with TIP (N = 14), Onlay (N = 14) and Duckett (N = 11). Uroflows improved significantly compared with prepubertal maximal flows. Impaired flow rate (<10 mL/s) was found in 14% (5/36). Fifty-one percent (20/39) required reoperations, 29% (4/14) of TIP, 50% (7/14) of Onlay and 82% (9/11) of Duckett (p = 0.0062). Median penile length in adolescence was 8.7 cm (4.0–11.0). Forty-four percent (12/27) of patients were dissatisfied with penile length. Patients were ‘satisfied’ or ‘very satisfied’ with meatal position and shape despite HOSE for meatal position being 11% (4/38) distal, 76% (29/38) proximal glanular and 13% (5/38) coronal. TIP patients had more curvature at puberty than Duckett (p = 0.0062). Patients that had a decurvature procedure had shorter penile length (p = 0.019). Discussion: A high complication rate is previously described, predominantly within the first years. Our study shows 50% of reoperations were performed after >3 years, illustrating the need for long-term follow-up. Patient satisfaction with a deviant meatal position is rarely reported [1,2]. Our results support a conservative approach to an asymptomatic retracted meatus. Limitations of this descriptive study are the non-comparable groups and the retrospective data for correlation, impeding evaluation of prognostic outcome-factors. The shorter penile length found in patients after plication, and increased curvature after TIP, is therefore merely descriptive. However, the findings are in line with earlier publications suggesting limited use of TIP, and plication (recommending ventral lengthening instead) to avoid penile shortening and curvature in these cases [3–5]. Conclusions: The urological long-term outcome after proximal hypospadias repair is good, although late reoperations are common. In adolescence, patients were dissatisfied with the short penile length but satisfied with meatal position, indicating that in proximal hypospadias, preserving penile length and correcting curvature are prioritized over a distal meatus. [Table presented] © 2020 The Author(s)
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| 2. |
- Borg, Helena, et al.
(författare)
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Four-hour voiding observations detect neurogenic lower urinary tract dysfunction in neonates with anorectal malformation
- 2021
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Ingår i: Journal of Pediatric Urology. - : Elsevier BV. - 1477-5131. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Neurogenic lower urinary tract dysfunction (LUTD) has been reported in 20–50% of children with anorectal malformations (ARM). As neurogenic LUTD represents an inherent risk of renal deterioration and urinary tract infections, an early diagnosis is important. The gold standard for evaluating neurogenic LUTD involves invasive urodynamic testing but a useful addition should be an easy-to-perform, non-invasive method of screening. Objective: In this study, we evaluate non-invasive 4 h voiding observations as a screening method for neurogenic LUTD in ARM children. Study design: Thirty-four patients with ARM, excluding those with perineal fistulas, were evaluated using both 4 h voiding observation and urodynamic testing before and after posterior sagittal anorectoplasty (PSARP) at median ages of 0.3 and 1.1 years. In the urodynamic assessment, the gold standard for neurogenic LUTD, nine children received the diagnosis, eight innate and one post-surgery. Results: Five boys with a high urethral fistula and anomalies of the spinal cord had urodynamically diagnosed neurogenic LUTD, a dysfunction also identified in the 4 h voiding observations. The pattern was characterised both by an increase in the number of voiding and the number of interrupted voiding, urinary leakage and elevated residual urine (Figure). In three girls with a vestibular fistula and tethered cord, an urodynamic investigation identified suspected mild neurogenic LUTD. In the voiding observations, an abnormal voiding pattern was not as obvious in the girls as in the five males. One girl with cloaca showed signs of postsurgical denervation damage, which was easily identified in the 4 h voiding observations (high capacity and elevated residual urine). Discussion: In the present study, gender differences in the severity of dysfunction reflected in the free voiding pattern in infants with ARM and neurogenic LUTD is probably the result of the different underlying causes of neurogenic LUTD in boys and girls. Boys with the condition have a congenital malformation of the caudal part of the spinal cord and girls a tethering of the cord. The most obvious limitation of the study was the low number of patients. Despite this, we consider the results worth reporting, since we found that results in the free voiding observations effectively confirmed what was established in the urodynamic investigations. Conclusion: In pre-PSARP patients, 4 h voiding observations can be used to screen for severe neurogenic LUTD requiring attention and treatment. When post-surgical denervation is suspected, the voiding observation is also a good method for indicating the diagnosis.[Formula presented] © 2020 Journal of Pediatric Urology Company
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| 3. |
- Holmdahl, Gundela, 1956, et al.
(författare)
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Health-Related Quality of Life in Patients with the Bladder Exstrophy-Epispadias Complex and Relationship to Incontinence and Sexual Factors: A Review of the Recent Literature.
- 2020
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Ingår i: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie. - : Georg Thieme Verlag KG. - 1439-359X. ; 30:3, s. 251-260
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Forskningsöversikt (refereegranskat)abstract
- The bladder exstrophy-epispadia complex (BEEC) includes malformations with midline closing defects of the lower abdomen and external genitalia. Long-term consequences with urinary incontinence and sexual dysfunction, in spite of multiple surgical interventions, are common and expected to affect the patient's health-related quality of life (HRQOL). The extent and the predictive factors are, however, not known. New patient-reported outcome research is emerging, but valid and reliable condition-specific HRQOL are still missing. The aim of this review is to summarize and discuss the latest published reports (2015-2019) on HRQOL in patients with the BEEC and its relationship to incontinence and sexual factors.
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| 4. |
- Nordenskjöld, A., et al.
(författare)
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Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
- 2023
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Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 191:2, s. 378-390
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Tidskriftsartikel (refereegranskat)abstract
- Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%–3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly. We have performed chromosomal microarray analysis on a cohort of 140 persons born with bladder exstrophy to look for submicroscopic chromosomal deletions and duplications. Pathogenic or possibly pathogenic microdeletions or duplications were found in 16 patients (11.4%) and further 9 with unknown significance. Two findings were in regions linked to known syndromes, two findings involved the same gene (MCC), and all other findings were unique. A closer analysis suggests a few gene networks that are involved in the pathogenesis of bladder exstrophy; the WNT-signaling pathway, the chromosome 22q11 region, the RIT2 and POU families, and involvement of the Golgi apparatus. Bladder exstrophy is a rare malformation and is reported to be associated with several chromosome aberrations. Our data suggest involvement of some specific molecular pathways.
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| 5. |
- Nordenström, Josefin, et al.
(författare)
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Changes in differential renal function after pyeloplasty in infants and children.
- 2020
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Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 16:3
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Tidskriftsartikel (refereegranskat)abstract
- Ureteropelvic junction obstruction (UPJO) is one of the most common causes of hydronephrosis in pediatric populations. Many need surgical intervention. The aim of surgery is preserving renal function and reducing symptoms such as urinary tract infections and pain.The objectives were to evaluate differential renal function (DRF) in infants and children after surgery for UPJO and to identify factors predicting postoperative improvement. The difference in outcomes between patients with antenatal hydronephrosis and those diagnosed later was evaluated.A total of 85 children (63 boys and 22 girls) aged 0-16 years, treated for UPJO with dismembered pyeloplasty, were followed up as per a structured protocol including ultrasounds and renal scans (MAG-3) pre-operatively and three and 18 months postoperatively. Five children with bilateral or single kidney UPJO were excluded. Patient records were retrospectively reviewed, and the patients were grouped as per prenatal (group 1, n=23) or postnatal (group 2, n=57) diagnosis. Univariable and multivariable logistic regression analyses searching for factors predicting >5% postoperative improvement in DRF on the obstructed side were performed. Factors included in analyses were age at diagnosis and surgery, sex, type of presentation, cause of obstruction, estimated glomerular filtration rate, pre-operative DRF, anteroposterior diameter (APD), APD/renal parenchymal thickness, and grade of hydronephrosis as per the Onen alternative grading system (grade 1-4).Pre-operative DRF on the obstructed side was a mean of 42% (standard deviation, 12), with no difference between the groups. The median age at surgery was 0.9 (0.2-10) and 8.1 (0.6-16) years in groups 1 and 2, respectively (P<0.001). The majority had unchanged DRF 18 months postoperatively, 19 (27%) patients improved by >5%, and one deteriorated. The proportion of patients with improved DRF was higher in group 1 (n=10; 45%, P=0.026). Anteroposterior diameter, APD/parenchymal thickness, pre-operative DRF, and antenatal diagnosis were predictors in the univariable analyses, and high APD (odds ratio [OR] = 1.1, P=0.0023), antenatal diagnosis (OR = 0.23, P=0.048), and low pre-operative DRF (OR = 0.90, P=0.0045) built the best model of independent factors predicting improvement in DRF in multivariable analyses (Summary Figure).The limitation of the study is that it is retrospective, but it has the advantage of auniform follow-up protocol, including patients from a five-year period, with few lost to follow-up. The results can be of interest in evaluating factors of importance for predicting recovery of function in obstructive uropathies in children.The majority of children had preserved or improved function after surgery for UPJO. Those with an antenatal diagnosis displayed a greater ability to catch up in DRF, and high APD, antenatal diagnosis, and low pre-operative DRF were independent predictive factors of an improvement in renal function after pyeloplasty.
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| 6. |
- Rieke, Johanna Magdalena, et al.
(författare)
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SLC20A1Is Involved in Urinary Tract and Urorectal Development
- 2020
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Ingår i: Frontiers in Cell and Developmental Biology. - : FRONTIERS MEDIA SA. - 2296-634X. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Previous studies in developingXenopusand zebrafish reported that the phosphate transporterslc20a1ais expressed in pronephric kidneys. The recent identification ofSLC20A1as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role ofSLC20A1in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish orthologslc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detectedSLC20A1in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequencedSLC20A1in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelicde novovariants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novelde novovariant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact ofSLC20A1variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggestSLC20A1is involved in urinary tract and urorectal development and implicateSLC20A1as a disease-gene for BEEC.
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| 7. |
- Örtqvist, Lisa, et al.
(författare)
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Bowel control, bladder function, and quality of life in children with cloacal malformations
- 2023
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Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 58:10, s. 1942-1948
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Long-term outcomes of cloacal malformations remain unclear. We evaluated postoperative bowel control, bladder function and quality of life in patients under 18 years of age with cloaca. Materials and methods: This was a multi-center cross-sectional observational study accomplished by the Nordic Pediatric Surgery Research Consortium. Patients with a cloacal malformation, 4–17 years of age, were eligible. Data including patient characteristics, surgical procedures, and complications were retrieved from case records. Established questionnaires with normative control values evaluating bowel function, bladder function, and health-related quality of life (HRQoL) were sent to the patients and their caregivers. The study was approved by the participating center's Ethics Review Authorities. Results: Twenty-six (67%) of 39 eligible patients with median age 9.5 (range, 4–17) years responded. Twenty-one (81%) patients had a common channel ≤3 cm. Imaging confirmed sacral anomalies in 11 patients and spinal cord abnormalities in nine. Excluding patients with stoma (n = 5), median bowel function score was 12 [7-19], and 5 patients (20%) reported a bowel function score ≥17, approaching normal bowel control level. Bowel management increased proportion of socially continent school-aged children to 52%. Six (23%) patients had a permanent urinary diversion or used clean intermittent catheterization (CIC), while majority (70%) of the remaining patients were urinary continent. The reported HRQoL was comparable to healthy Swedish children. Conclusion: Whilst well-preserved spontaneous bowel control was rare, a majority of patients were dry for urine without any additional procedures. Few patients experienced social problems or negative impact on HRQoL due to bladder or bowel dysfunction. Level of evidence: Level IV.
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