Workstream 2 - ERN eUROGEN

Workstream 2: Functional urogenital conditions requiring highly specialised surgery

Workstream 2 focuses on functional urogenital conditions requiring highly specialised surgery. The Expertise Areas (EAs) covered by Workstream 2 are below.

These EAs demand require specific diagnoses and surgical correction. Expertise is crucial to prevent costly and harmful secondary surgeries. Multi-disciplinary teams (MDTs) offer life-long care, enhancing post-operative well-being. ERN eUROGEN bridges paediatric and adult care gaps, enhancing outcomes through crossover and workstream transfer from WS1 to WS2. Improved transition ensures lifelong positive outcomes and disease self-management, ensuring continuous care across life stages.

Leads

WS Lead: Margit Fisch, DE Hamburg-Eppendorf UK
Clinical Lead: vacant
Education Lead: Frank van der Aa, BE Leuven UZ
Research Lead: John Heesakkers, NL Maastricht UMC

EA 2.1 Complicated & complex pelvic floor disorders

Definition	Complicated and complex pelvic floor disorders refer to a group of conditions affecting the muscles, ligaments, and nerves that support the pelvic organs, such as the bladder, uterus, and rectum. These conditions can cause a variety of symptoms, such as pelvic pain, urinary and fecal incontinence, and sexual dysfunction. Complicated pelvic floor disorders typically involve additional medical complications, such as a history of pelvic surgery or radiation therapy, pelvic trauma, or comorbid medical conditions, which can complicate diagnosis and treatment. Complex pelvic floor disorders refer to cases that are particularly difficult to diagnose or treat, often due to the presence of multiple coexisting conditions or a lack of clear understanding of the underlying causes. Treatment for complicated and complex pelvic floor disorders may involve a multidisciplinary approach, including medication, physical therapy, behavioral therapy, and surgery, tailored to the individual’s specific condition and needs. Whilst the majority of primary conditions associated with pelvic floor dysfunction will be managed by gynaecologists and urologists with an interest in female urology and urogynaecology more complex cases should be managed by a core multidisciplinary team should consist of a urogynaecologist, female urologist, colorectal surgeon, nurse specialist and pelvic floor physiotherapist. Additional members may include neurologists, geriatricians, pharmacists and medical physicists.
Conditions & Codes	Vesicointestinal fistula: ICD-10 Code N32.1 Vesical fistula, not elsewhere classified: ICD-10 Code N32.2 Fistulae involving female genital tract: ICD-10 Code N82 Stress incontinence: ICD-10 Code N39.3 Other specified urinary incontinence: ICD-10 Code N39.4 Female genital prolapse: ICD-10 Code N81
EAC & Vice-EAC	Expertise Area Coordinator: John Heesakkers, NL Maastricht UMC Vice-EAC: Michel Wyndaele, NL Utrecht UMC
Healthcare Providers	BE Antwerp UZ, BE Leuven UZ, DE Hamburg-Eppendorf UK, ES Madrid 12 de Octubre, ES Barcelona Fundació Puigvert, ES Santander Valdecilla, FR Paris Necker, IT Padua AOU, IT Rome Gemelli, NL Nijmegen Radboudumc, NL Utrecht UMC, SE Stockholm Karolinska
Additional Resources	EAU Non-Neurogenic Female LUTS Guidelines: These guidelines aim to provide sensible and practical evidence-based guidance on the clinical problems associated with female lower urinary tract symptoms (LUTS), and treatments including surgery. EAU Non-Neurogenic Male LUTS Guidelines. These guidelines offer practical evidence-based guidance on the assessment and treatment of men aged 40 years or older with various non-neurogenic benign forms of lower urinary tract symptoms (LUTS). EAU Overactive Bladder Syndrome Patient Information. The European Association of Urology (EAU) Patient Office provides reliable patient information on urology conditions and urology health. Incontinence. Disease InfoSearch page.

EA 2.2 Rare diseases & conditions affecting the female urethra

Definition	Rare diseases and conditions affecting the female urethra refer to a group of uncommon and often poorly understood medical conditions that affect the structure or function of the female urethra, the tube that carries urine from the bladder to the outside of the body. These conditions can range from congenital anomalies, such as urethral duplication or urethral diverticulum, to acquired conditions, such as urethral stricture or urethral cancer. Symptoms of rare diseases and conditions affecting the female urethra can include urinary incontinence, pain or discomfort during urination, recurrent urinary tract infections, or blood in the urine. Diagnosis may involve a combination of physical exams, imaging studies, and diagnostic procedures, such as cystoscopy or urodynamic testing. Treatment for rare diseases and conditions affecting the female urethra may involve medical management, such as antibiotics or hormone therapy, or surgical interventions, such as urethral reconstruction, depending on the specific condition and the individual’s needs.
Conditions & Codes	Urethral stricture, urethral fistula: ICD-10 Codes N35, N36
EAC & Vice-EAC	Expertise Area Coordinator: vacant Vice-EAC: vacant
Healthcare Providers	BE Antwerp UZ, BE Leuven UZ, DE Hamburg-Eppendorf UK, ES Madrid 12 de Octubre, IT Padua AOU, IT Rome Gemelli, NL Nijmegen Radboudumc, NL Utrecht UMC, SE Stockholm Karolinska
Additional Resources	EAU Urethral Strictures Guidelines. The European Association of Urology (EAU) Urethral Strictures Guidelines aim to provide a comprehensive overview of urethral strictures in male, female, and transgender patients.

EA 2.3 Urethral reconstruction in rare diseases & conditions

Definition	Urethral reconstruction in rare diseases and conditions refers to surgical procedures that aim to repair or reconstruct the urethra in cases of congenital anomalies or acquired conditions that affect its structure or function. These conditions can include rare diseases such as urethral duplication or cloacal anomalies, or acquired conditions such as urethral stricture or urethral cancer. Urethral reconstruction may involve various techniques, such as urethral dilation, urethral stent placement, or open surgical procedures such as urethroplasty, depending on the location and severity of the urethral abnormality. In some cases, tissue grafts or flaps may be used to reconstruct the urethra, and in other cases, the urethra may need to be completely rerouted or replaced.
Conditions & Codes	Urethral stricture, urethral fistula: ICD-10 Codes N35, N36
EAC & Vice-EAC	Expertise Area Coordinator: Gunter de Win, BE Antwerp UZ Vice-EAC: vacant
Healthcare Providers	BE Antwerp UZ, BE Leuven UZ, DE Hamburg-Eppendorf UK, ES Madrid 12 de Octubre, ES Barakaldo Cruces, ES Barcelona Fundació Puigvert, ES Santander Valdecilla, IT Padua AOU, IT Rome Gemelli, NL Nijmegen Radboudumc, NL Utrecht UMC, SE Stockholm Karolinska, SE Lund SUS, SE Uppsala Akademiska
Additional Resources	EAU Urethral Strictures Guidelines. The European Association of Urology (EAU) Urethral Strictures Guidelines aim to provide a comprehensive overview of urethral strictures in male, female, and transgender patients.

EA 2.4 Rare retroperitoneal diseases & conditions

Definition	Retroperitoneal diseases and conditions refer to those that affect the organs and structures located behind the peritoneum, which is the membrane that lines the abdominal cavity. Rare retroperitoneal diseases and conditions are those that are not commonly found in this area and may affect various structures, such as blood vessels, nerves, lymph nodes, or connective tissues.
Conditions & Codes	Obstructive and reflex uropathy: ICD-10 Code N13 IgG4-related retroperitoneal fibrosis: ORPHAcode 49041 Familial vesicoureteral reflux: ORPHAcode 289365
EAC & Vice-EAC	Expertise Area Coordinator: vacant Vice-EAC: vacant
Healthcare Providers	BE Antwerp UZ, BE Leuven UZ, DE Hamburg-Eppendorf UK, ES Madrid La Paz, ES Barcelona Fundació Puigvert, IT Padua AOU, IT Rome Gemelli
Additional Resources	Retroperitoneal fibrosis. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Retroperitoneal Fibrosis World Support. Offers both a warm and comforting welcome and an unrivalled learning experience to build self-awareness of RF. They welcome all patients, caregivers, family, friends, and interested medical professionals. This forum is for each member to offer others moral support, friendship, and opinions and advice based on our personal experiences with RF. Vesicoureteral reflux. Disease InfoSearch page.

EA 2.5 Interstitial Cystitis

Definition	Interstitial cystitis (IC) (also known as Bladder Pain Syndrome or Painful Bladder Syndrome) is a chronic condition that causes pain and discomfort in the bladder and pelvic region. The exact cause of IC is unknown, but it is characterised by symptoms such as frequent and urgent urination, pressure or pain in the bladder, and discomfort in the pelvic region. It can also lead to bladder dysfunction and decreased quality of life. There is no cure for IC, but various treatments, such as medication, bladder training, and physical therapy, can help manage its symptoms.
Conditions & Codes	Interstitial cystitis: ORPHAcode 37202 / ICD-10 Codes N30.1, N30.8, N30.9
EAC, Vice-EAC & ePAGs	Expertise Area Coordinator: Mariangela Mancini, IT Vice-EAC: Alessandro Giammò, IT Turin AOU Patient Representatives: Anna De Santis, AICI, Serena Bartezzati, independent
Healthcare Providers	BE Antwerp UZ, BE Leuven UZ, DE Hamburg-Eppendorf UK, ES Madrid 12 de Octubre, ES Madrid La Paz, ES Barcelona Fundació Puigvert, IT Padua AOU, IT Turin AOU, IT Rome Gemelli, NL Nijmegen Radboudumc
Additional Resources	Associazione Italiana Cisitite Interstiziale (AICI Onlus). EAU Chronic Pelvic Pain Guidelines. This guideline plays an important role in the process of consolidation and improvement of care for patients with pelvic pain and associated lower abdominal pain. EAU Chronic Pelvic Pain Syndrome Patient Information. The European Association of Urology (EAU) Patient Office provides reliable patient information on urology conditions and urology health. International Painful Bladder Foundation (IPBF). International Society for the Study of Bladder Pain Syndrome (ESSIC). Interstitial Cystitis. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Patient Journey (Click here to download as a PDF)	IC-Patient-Journey

EA 2.6 Adult urogenital reconstructive surgery (transition from WS1)

Definition	This Expertise Area (EA) relates to patients transitioning from paediatric care under Workstream 1: Rare congenital uro-recto-genital anomalies once they reach adulthood. Adult urogenital reconstructive surgery is a specialised surgical subspecialty that focuses on restoring function and normal anatomy to the urinary tract and reproductive system of adult patients who have congenital abnormalities, acquired conditions, or injuries that affect these systems. This type of surgery involves complex procedures to repair, reconstruct, or replace parts of the urinary and genital organs, including the kidneys, ureters, bladder, urethra, prostate, and genitalia. The goal of adult urogenital reconstructive surgery is to improve patients’ quality of life by addressing problems such as urinary incontinence, bladder dysfunction, urethral strictures, genital malformations, and sexual dysfunction.
Conditions & Codes	From congenital malformations: See Workstream 1 Expertise Areas Rare tumours with highly specialized surgery: Nephroblastoma (Wilms’ tumor): ORPHAcode 654 Neuroblastoma: ORPHAcodes 635 Rhabdomyosarcoma: ORPHAcode 780, Vulvovaginal rhabdomyosarcoma: ORPHAcode 206492, Rhabdomyosarcoma of the cervix uteri: ORPHAcode 213802, Rhabdomyosarcoma of the corpus uteri: ORPHAcode 213615 Malignant neoplasm of other connective and soft tissue, unspecified: ICD-10 Code C49.9 Malignant neoplasm of vagina: ICD-10 Code C52 Malignant neoplasm of cervix uteri: ICD-10 Codes C53, C53.1, C53.8 Malignant neoplasm of corpus uteri: ICD-10 Code C54.2 Malignant neoplasm of kidney, except renal pelvis: ICD-10 Code C64 Malignant neoplasm of adrenal gland: ICD-10 Code C74.9
EAC, Vice-EAC & ePAG	Expertise Area Coordinator: Laetitia de Kort, NL Utrecht UMC Vice-EAC: vacant Patient Representative: Kate Tyler, TOFS
Healthcare Providers	BE Antwerp UZ, DE Mannheim UK, DE Hamburg-Eppendorf UK, ES Barcelona Fundació Puigvert, NL Utrecht UMC
Additional Resources	Nephroblastoma (Wilms’ tumor). Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Neuroblastoma. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.

EA 2.7 Surgery for transgender patients

Definition	Urinary incontinence may occur seen in transgender individuals after gender-affirming surgery. Urogenital/urological surgery for transgender patients is a specialized surgical subspecialty that focuses on addressing urinary and reproductive system-related concerns of transgender individuals. This type of surgery can include various procedures such as vaginoplasty, phalloplasty, metoidioplasty, orchiectomy, penectomy, and urethroplasty. The goal of urogenital/urological surgery for transgender patients is to alleviate gender dysphoria, a condition where individuals experience distress due to a mismatch between their gender identity and their assigned sex at birth.
Conditions & Codes	Transgender: Male-to-female and female-to-male surgery and surgery for complications: ICD-10 Code F64
EAC & Vice-EAC	Expertise Area Coordinator: Armin Soave, DE Hamburg-Eppendorf UK Vice-EAC: Timo Ole Nieder, DE Hamburg-Eppendorf UK
Healthcare Providers	DE Mannheim UK, DE Hamburg-Eppendorf UK