Wolfgang H. Rösch
University of Regensburg
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Orphanet Journal of Rare Diseases | 2009
Anne-Karoline Ebert; Heiko Reutter; Michael Ludwig; Wolfgang H. Rösch
Exstrophy-epispadias complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) to classical bladder exstrophy (CEB) and exstrophy of the cloaca (EC). Depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. Prevalence at birth for the whole spectrum is reported at 1/10,000, ranging from 1/30,000 for CEB to 1/200,000 for EC, with an overall greater proportion of affected males. EEC is characterized by a visible defect of the lower abdominal wall, either with an evaginated bladder plate (CEB), or with an open urethral plate in males or a cleft in females (E). In CE, two exstrophied hemibladders, as well as omphalocele, an imperforate anus and spinal defects, can be seen after birth. EEC results from mechanical disruption or enlargement of the cloacal membrane; the timing of the rupture determines the severity of the malformation. The underlying cause remains unknown: both genetic and environmental factors are likely to play a role in the etiology of EEC. Diagnosis at birth is made on the basis of the clinical presentation but EEC may be detected prenatally by ultrasound from repeated non-visualization of a normally filled fetal bladder. Counseling should be provided to parents but, due to a favorable outcome, termination of the pregnancy is no longer recommended. Management is primarily surgical, with the main aims of obtaining secure abdominal wall closure, achieving urinary continence with preservation of renal function, and, finally, adequate cosmetic and functional genital reconstruction. Several methods for bladder reconstruction with creation of an outlet resistance during the newborn period are favored worldwide. Removal of the bladder template with complete urinary diversion to a rectal reservoir can be an alternative. After reconstructive surgery of the bladder, continence rates of about 80% are expected during childhood. Additional surgery might be needed to optimize bladder storage and emptying function. In cases of final reconstruction failure, urinary diversion should be undertaken. In puberty, genital and reproductive function are important issues. Psychosocial and psychosexual outcome depend on long-term multidisciplinary care to facilitate an adequate quality of life.
The Journal of Urology | 2008
Lisa Gambhir; T. Höller; Martin Müller; G. Schott; Hannes Vogt; Birte Detlefsen; Anne-Karoline Ebert; M. Fisch; S. Beaudoin; Raimund Stein; Simeon A. Boyadjiev; John P. Gearhart; Wolfgang H. Rösch; Boris Utsch; Thomas M. Boemers; Heiko Reutter; Michael Ludwig
PURPOSE We sought to identify causative nongenetic and genetic risk factors for the bladder exstrophy-epispadias complex. MATERIALS AND METHODS A total of 237 families with the bladder exstrophy-epispadias complex were invited to participate in the study, and information was obtained from 214 families, mainly from European countries. RESULTS Two families showed familial occurrence. Male predominance was found among all subgroups comprising epispadias, classic bladder exstrophy and cloacal exstrophy, with male-to-female ratios of 1.4:1, 2.8:1 and 2.0:1, respectively (p = 0.001). No association with parental age, maternal reproductive history or periconceptional maternal exposure to alcohol, drugs, chemical noxae, radiation or infections was found. However, periconceptional maternal exposure to smoking was significantly more common in patients with cloacal exstrophy than in the combined group of patients with epispadias/classic bladder exstrophy (p = 0.009). Only 16.8% of mothers followed the current recommendations of periconceptional folic acid supplementation, and 17.6% had started supplementation before 10 weeks of gestation. Interestingly, in the latter group mothers of patients with cloacal exstrophy were more compliant with folic acid supplementation than were mothers of the combined group of patients with epispadias/classic bladder exstrophy (p = 0.037). Furthermore, mothers of children with cloacal exstrophy knew significantly more often prenatally that their child would have a congenital malformation than did mothers of children with epispadias/classic bladder exstrophy (p <0.0001). CONCLUSIONS Our study corroborates the hypothesis that epispadias, classic bladder exstrophy and cloacal exstrophy are causally related, representing a spectrum of the same developmental defect, with a small risk of recurrence within families. Embryonic exposure to maternal smoking appears to enforce the severity, whereas periconceptional folic acid supplementation does not seem to alleviate it. There is a disproportional prenatal ultrasound detection rate between severe and mild phenotypes, possibly due to the neglect of imaging of full bladders with a focus on neural tube defects.
Journal of Pediatric Urology | 2010
Anne K. Ebert; Günter E. Schott; Monika Bals-Pratsch; Bernd Seifert; Wolfgang H. Rösch
OBJECTIVE There is a paucity of knowledge about long-term outcome issues in the bladder-exstrophy-epispadias complex (BEEC). Adult male BEEC patients were investigated in respect of bladder and renal function, fertility, genital function and psychosocial facts. PATIENTS AND METHODS In a cross-sectional study, 17 adult male BEEC patients (mean age 23.4 years) from a single centre were evaluated with a questionnaire, renal and bladder ultrasound, blood tests, hormonal profile and semen analysis. RESULTS Phenotypically one patient had complete epispadias and 16 had classical bladder exstrophy. Five patients underwent a one-stage functional reconstruction as a primary and 12 as a redo procedure. After a mean follow-up of 19.4 years, 15 bladders were preserved with 12 voiding per urethram and 3 performing intermittent catheterization; 2 were secondarily diverted. Significant residual urine was present in 10; kidneys were normal in 14 patients. Sixteen patients proved ejaculations, 3 had normospermia, 7 oligoasthenospermia and 6 azospermia. In patients with only one single bladder neck procedure normospermia was statistically significant. CONCLUSION After functional BEEC reconstruction, long-term bladder function is preserved with mostly normal renal function. The number of bladder neck attempts has a significant influence on andrologic outcome. Detailed analysis may detect multifactorial pathogenesis from the impaired sperm quality in the BEEC.
American Journal of Medical Genetics Part A | 2007
Heiko Reutter; Lihong Qi; John P. Gearhart; Thomas Boemers; Anne Karoline Ebert; Wolfgang H. Rösch; Michael Ludwig; Simeon A. Boyadjiev
Heiko Reutter,* Lihong Qi, John P. Gearhart, Thomas Boemers, Anne-Karoline Ebert, Wolfgang Rösch, Michael Ludwig, and Simeon A. Boyadjiev Department of Human Genetics, University of Bonn, Bonn, Germany Rowe Program in Human Genetics, Department of Public Health Sciences, University of California—Davis, Davis, California Department of Urology, The Johns Hopkins Hospital, Baltimore, Maryland Department of Pediatric Surgery and Pediatric Urology, Children’s Hospital, Cologne, Germany Department of Pediatric Urology, St. Hedwig Hospital, Barmherzige Brüder, Germany Department of Clinical Biochemistry, University of Bonn, Bonn, Germany Section of Genetics, Department of Pediatrics, University of California—Davis, Davis, California
European Urology | 2008
Anne K. Ebert; Wolfgang H. Rösch; Thomas Vogt
BACKGROUND Management of lichen sclerosus (LS) in boys is still controversial. Although in most cases only the prepuce is affected, meatal and urethral involvement may require major surgical reconstruction with substantial morbidity. OBJECTIVE Because the frequency of such complicated courses is still unclear, an adjuvant postoperative treatment is highly desirable. Therefore, we addressed safety and tolerability of tacrolimus 0.1% ointment in the postoperative period. DESIGN, SETTING, AND PARTICIPANTS Among 222 penile surgeries, in 25 cases LS was confirmed histologically and 20 of those patients participated in the adjuvant treatment study. Moreover, 18 patients of the same cohort showed a lichenoid inflammatory reaction pattern suggestive of early but not fully established LS. INTERVENTIONS AND MEASUREMENTS Subsequent to the operation and after explicit information about off-label use, parents applied tacrolimus 0.1% ointment twice daily to the glans and the meatus for 3 wk in cases of proven LS. The 18 patients with possible early LS were followed up only without any treatment. Clinical follow-up was performed up to 13 mo (median). RESULTS AND LIMITATIONS All 20 LS patients completed the topical treatment without any relevant side-effects. Two relapses occurred in the treatment group and were clinically cured with an additional 3-wk cycle of topical tacrolimus 0.1% ointment. None of the 18 early LS cases progressed to full-scale LS. CONCLUSIONS This is the first study showing that tacrolimus 0.1% ointment applied immediately after surgery of fully established LS is a tolerable and most probably safe adjuvant novel treatment option. Because the therapy led to disease control in all treated individuals for >1 yr (median), this study establishes the groundwork for future trials with expanded treatment and follow-up periods to verify the true clinical benefit of tacrolimus in patients after LS surgery. Lichenoid tissue reactions suggestive of early LS seem to require no adjuvant treatment.
European Journal of Medical Genetics | 2010
Markus Draaken; Heiko Reutter; Charlotte Schramm; Enrika Bartels; Thomas M. Boemers; Anne-Karoline Ebert; Wolfgang H. Rösch; Annette Schröder; Raimund Stein; Susanne Moebus; Dietlinde Stienen; Per Hoffmann; Markus M. Nöthen; Michael Ludwig
The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplification (MLPA) analysis was performed with an MLPA 22q11 kit in a further 50 non-syndromic EEC cases. We identified one CBE patient with an overlapping 22q11.21 duplication in whom the duplication had been transmitted from the unaffected mother. Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. Duplications in this region result in a wide and variable spectrum of clinical presentations that include features of the VCFS/DGS, while some carriers present with a completely normal phenotype. Our findings extend the phenotypic spectrum of the 22q11.2 duplication syndrome, and indicate that this aberration predisposes to CBE with incomplete penetrance.
Urology | 2008
Anne K. Ebert; Monika Bals-Pratsch; Bernd Seifert; Heiko Reutter; Wolfgang H. Rösch
OBJECTIVES Genital and reproductive function have a strong effect on the quality of life of adolescent and adult male patients with the exstrophy-epispadias complex (EEC). According to the limited available data, early exstrophy reconstruction, as well as recurrent infectious or operative trauma, have been responsible for the low fertility rates. METHODS We evaluated 21 adult male patients with EEC. Of the 21 patients, 17 had undergone single-stage reconstruction, 1 had undergone a staged approach, 2 had primarily undergone urinary diversion, and 1 had only undergone external genital reconstruction of epispadias. All were evaluated with a semistructured questionnaire, clinical examination, ultrasonography, and hormonal and semen analyses. RESULTS All patients reported erections, and 19 were sure about ejaculation. Of the 21 patients, 18 patients proved antegrade and 1 retrograde ejaculation; 2 patients were not able to retrieve their specimen. Fifteen patients had a regular testicular size, and four had unilateral and two bilateral small testes. Four had irregular intratesticular ultrasound findings. Of these 4 patients, 1 had a testicular intraepithelial neoplasia that was treated with radiotherapy. The hormonal analysis findings were normal for 17 patients and 4 had elevated follicle-stimulating hormone levels. The semen analysis showed normozoospermia in 3, asthenozoospermia in 5, oligo-asthenozoospermia in 6, and azoospermia in 5 patients. The seminal parameters included fructose 1441.8 microg/mL (normal 1200-4500), zinc 43.3 microg/mL (normal 70-250), and alpha-glucosidase 19.13 mU/mL (normal >20). CONCLUSIONS Single-stage reconstruction with consequent placement of the colliculus seminalis in the posterior urethra results in normal ejaculation in 94.1% of patients with EEC. Because of the severely impaired sperm quality and hormonal findings, patients with EEC should be offered adequate diagnostic and treatment options.
Urology | 2013
Peter Rubenwolf; Anne-Karoline Ebert; Petra Ruemmele; Wolfgang H. Rösch
We report 4 patients with upper urinary tract (UUT) obstruction requiring ureteric reimplantation at 1, 7, 28, and 63 months after dextranomer/hyaluronic acid copolymer (Dx/HA) injection for vesicoureteric reflux. Histopathologic evaluation of ureteric segments revealed extensive foreign body formation in all cases. We conclude that UUT obstruction is a rare but serious complication after Dx/HA injection that can occur even years after surgery. The incidence of delayed-onset UUT obstruction may be higher than previously noted. Long-term follow-up and a critical reappraisal of the method are needed to assess the late sequelae of Dx/HA injection therapy for vesicoureteric reflux.
The Journal of Pediatrics | 2011
Heiko Reutter; Simeon A. Boyadjiev; Lisa Gambhir; Anne Karoline Ebert; Wolfgang H. Rösch; Raimund Stein; Annette Schröder; Thomas M. Boemers; Enrika Bartels; Hannes Vogt; Boris Utsch; Martin Müller; Birte Detlefsen; Nadine Zwink; Sebastian Rogenhofer; Rita Gobet; Goedele M.A. Beckers; Arend Bökenkamp; Abdol Mohammad Kajbafzadeh; Enrique Jaureguizar; Markus Draaken; Yegappan Lakshmanan; John P. Gearhart; Michael Ludwig; Markus M. Nöthen; Ekkehart Jenetzky
OBJECTIVE To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). STUDY DESIGN Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were compared with identify factors that contribute to phenotype severity. RESULTS Males were overrepresented in all subgroups. A relatively high prevalence of cleft lip, with or without cleft palate, was observed. Maternal smoking and medical radiation during the first trimester were associated with the severe cloacal exstrophy phenotype. Compliance with periconceptional folic acid supplementation was associated with the mildest phenotype (epispadias). CONCLUSIONS Periconceptional folic acid supplementation appears to prevent the development of the severe phenotype of BEEC.
PLOS Genetics | 2015
Markus Draaken; Michael Knapp; Tracie Pennimpede; Johanna M. Schmidt; Anne-Karolin Ebert; Wolfgang H. Rösch; Raimund Stein; Boris Utsch; Karin Hirsch; Thomas M. Boemers; Elisabeth Mangold; Stefanie Heilmann; Kerstin U. Ludwig; Ekkehart Jenetzky; Nadine Zwink; Susanne Moebus; Bernhard G. Herrmann; Manuel Mattheisen; Markus M. Nöthen; Michael Ludwig; Heiko Reutter
The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and is thought to result from aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form of BEEC is isolated classic bladder exstrophy (CBE). To identify susceptibility loci for CBE, we performed a genome-wide association study (GWAS) of 110 CBE patients and 1,177 controls of European origin. Here, an association was found with a region of approximately 220kb on chromosome 5q11.1. This region harbors the ISL1 (ISL LIM homeobox 1) gene. Multiple markers in this region showed evidence for association with CBE, including 84 markers with genome-wide significance. We then performed a meta-analysis using data from a previous GWAS by our group of 98 CBE patients and 526 controls of European origin. This meta-analysis also implicated the 5q11.1 locus in CBE risk. A total of 138 markers at this locus reached genome-wide significance in the meta-analysis, and the most significant marker (rs9291768) achieved a P value of 2.13 × 10−12. No other locus in the meta-analysis achieved genome-wide significance. We then performed murine expression analyses to follow up this finding. Here, Isl1 expression was detected in the genital region within the critical time frame for human CBE development. Genital regions with Isl1 expression included the peri-cloacal mesenchyme and the urorectal septum. The present study identified the first genome-wide significant locus for CBE at chromosomal region 5q11.1, and provides strong evidence for the hypothesis that ISL1 is the responsible candidate gene in this region.