Rare and Complex Urology

Rare and Complex Urology has been produced by the European Reference Network (ERN) for rare urogenital diseases and complex conditions, ERN eUROGEN. The book combines information on network developments and clinical and surgical aspects, allowing for better diagnoses, treatments, and patient outcomes. The expertise areas covered include those relating to the bladder, stone and kidney diseases, congenital malformations, pelvic floor disorders, the urethra, reconstruction, and rare cancers and tumours. This is a must-have reference for clinicians and basic scientists interested in translational urology and surgery, including urologists, paediatric surgeons, and multidisciplinary team members seeking guidance on how to implement novel research.

Table of Contents

Cover image
Title page
Table of Contents
Copyright
Contributors
Acknowledgements
Part I: Introductory chapters
Chapter 1 Introduction: Rare urology, ERN eUROGEN and knowledge exchange
Abstract
Chapter 2 The European Association of Urology (EAU) and ERN eUROGEN
Abstract
Part II: Overview chapters
Chapter 3 ERN eUROGEN: Impact and innovations for rare and complex urology
Abstract
Introduction
ERN eUROGEN: The European reference network for rare urogenital diseases and complex conditions
Coordination
Dissemination
Evaluation
Healthcare and CPMS
Registries, data management and analysis
Training and education
Clinical practice guidelines and clinical decision support tools
Conclusion
References
Chapter 4 The patient view on the ERN programme: Share, care, cure, and pathways
Abstract
European Reference Networks: Advancing care and treatments for those born with rare and complex diseases
Establishing best practice—Caring and collaboration
The role of European Patient Advocacy Groups
Centralisation of care in rare diseases and complex conditions [6]
Adapting to a different life
Rare diseases and complex conditions—A lifelong challenge
Puberty
Promoting Independence
Facing the challenges of rare diseases and complex conditions – The example of living with anorectal malformation
Clinicians and therapeutic staff
Holistic care
A collaborative approach
Rare diseases and complex conditions—A late diagnosis: The real story of the psychological impact of KS/XXY
Promoting excellent communication
References
Chapter 5 Cross-ERN actions and collaborations by ERN eUROGEN
Abstract
Introduction and background
Policy context
Cross-ERN collaboration
European collaboration
Global collaboration
Opportunities
References
Chapter 6 Development of the ERN eUROGEN registry
Abstract
Acknowledgments
Introduction
Objectives
Data elements and data collection
Registry setup
Data ‘ownership’
Roles
Access to the ERN eUROGEN registry
Finances
Data analyses
Quality aspects
Example of the potential use of the registry
References
Chapter 7 Development of ERN eUROGEN clinical practice guidelines (CPGs) and clinical decision support tools (CDSTs)
Abstract
Acknowledgments
Introduction and background
ERN guidelines consortium
ERN Eurogen Guidelines Expert Panel
ERN Eurogen Guidelines work and collaborations
Future objectives
References
Part III: Clinical chapters
Section A: Workstream 1: Rare congenital uro-recto-genital anomalies
Chapter 8 Expertise Area 1.1: Complex genital reconstructions in patients with differences of sex development
Abstract
Overview/DSD classification
Diagnostics
Recommended age at surgery and legislation
Surgical concepts of complex genital reconstruction
References
Chapter 9 Expertise Area 1.2: Bladder exstrophy/epispadias
Abstract
Epidemiology
Types and variants
Surgical management: Two current surgical strategies
References
Chapter 10 Expertise Area 1.3: Rare urological stones and kidney diseases
Abstract
Introduction
Epidemiology
Composition
Tests
Aetiologies
Management
Conclusion
References
Chapter 11 Expertise Area 1.4: Nonsyndromic urogenital tract malformation (neurogenic bladder and spina bifida)
Abstract
Introduction
Background
Classification
Neurological pathologies affecting the LUT
Diagnostic evaluation
Investigations
Other electrophysiological studies
Clinical approach
Management of neurogenic bladder in children
Sexuality and fertility
Surgery for continence (Table 5)
Follow-up evaluation
Conclusions
References
Chapter 12 Expertise Area 1.5: Posterior urethral valves
Abstract
Definition
Embryology
Epidemiology
Genetics
Pathophysiology
Antenatal diagnosis
Antenatal management
Immediate postnatal management
Diversion
Ablation
Other surgical interventions
Medical interventions
Long-term outcome and management
Quality of life with PUV
References
Chapter 13 Expertise Area 1.6: Proximal hypospadias
Abstract
Embryology
Aetiology
Clinical features
Surgical assessment and treatment strategies
Work-up
Long term and well-being
Adult hypospadias and need for follow-up
References
Chapter 14 Expertise Area 1.7: Ano-uro-rectal malformations
Abstract
Introduction
Classification
Diagnostics and preoperative management
Treatment
Follow-up
Outcome
Transition and adult care
Centers of expertise in Europe
References
Section B: Workstream 2: Functional urogenital conditions requiring highly specialised surgery
Chapter 15 Expertise Area 2.1: Complicated and complex pelvic floor disorders
Abstract
Complications of polypropylene mesh and tapes
Complicated urinary incontinence
Postprostatectomy urinary incontinence
Vesicovaginal and Vesicorectal fistulae
References
Chapter 16 Expertise Area 2.2: Rare diseases and conditions affecting the female urethra
Abstract
Introduction and epidemiology
Urethral stricture
Urinary fistula
References
Chapter 17 Expertise Area 2.3: Urethral reconstruction in rare diseases and complex conditions
Abstract
Introduction
Difficult strictures in otherwise healthy urethra
Difficult strictures in the diseased urethra
Panurethral strictures
Strictures post treatment (for other diseases)
Congenital urethral malformations (e.g. proximal hypospadias)
Future perspective: Tissue engineering?
References
Chapter 18 Expertise Area 2.4: Rare retroperitoneal diseases and conditions
Abstract
Hydronephrosis
Upper urinary tract obstruction
Ureteropelvic junction obstruction (UPJO)
Primary obstructive megaureter
Other rare retroperitoneal conditions
References
Chapter 19 Expertise Area 2.5: Bladder pain syndrome/Interstitial cystitis (BPS/IC)
Abstract
Introduction
Definition
Incidence
Diagnosis and the delayed diagnosis/misdiagnosis problem
Patient history
Physical exam
Questionnaires
Frequency voiding chart
Urine sediment and culture
Cytology
Cystoscopy (with or without anaesthesia and/or diagnostic hydrodistension)
Biopsy and pathohistological evaluation
Urodynamics
Imaging
Diagnostic instillations with potassium chloride or lidocaine
New lines of diagnostics
Therapy
Nonendoscopic surgical treatment
Conclusive remarks
References
Chapter 20 Expertise Area 2.6: Adult urogenital reconstructive surgery
Abstract
Promoting bladder storage function
Continence promoting surgery
Bladder emptying by a catheterisable channel
Management of Mayer-Rokitansky-Küster-Hauser-Syndrome (MRKHS)
References
Chapter 21 Expertise Area 2.7: Surgery for transgender patients
Abstract
Introduction
Interdisciplinary health care
Mental health care
Surgery
References
Section C: Workstream 3: Rare urogenital tumours
Chapter 22 Expertise Area 3.1: Penile cancer
Abstract
Epidemiology and aetiology of penile cancer
Histology
TNM classification
Pathophysiology of PSCC
Diagnosis and staging
Management of PSCC
Quality of life (QoL)
Centralised healthcare and reference networks
References
Chapter 23 Expertise Area 3.2: Testicular cancer
Abstract
Serum tumour markers in testicular germ cell tumours
Management of postchemotherapy residual tumour masses and operative management in complex cases
Testicular cancer survivorship
Management of chemotherapy complications and delays
References
Chapter 24 Expertise Area 3.3: Adrenal cancer
Abstract
Acknowledgement
Introduction
Clinical presentation and examination
Diagnostic work-up in adrenal incidentaloma
Surgical approach
Systemic treatment and adjuvant therapy
References
Chapter 25 Expertise Area 3.4: Abdominopelvic sarcoma
Abstract
Definition and epidemiology
Anatomical complexity of the retroperitoneum and the subperitoneal space
Histopathological classification of RPS and pelvic sarcomas
Differential diagnosis
Clinical presentation
Diagnostic roadmap
Staging
Need for biopsy
Treatment
Defining a treatment plan for each patient
Anatomical key points in the evaluation of an RPS or a subperitoneal sarcoma: Focus on assessment of tumour surgical resectability
Resectability and preoperative treatment (neoadjuvant approach)
Preoperative radiation
Intensity-modulated radiation therapy
Synchronous chemo-radiation
Neoadjuvant chemotherapy
With regional hyperthermia
Surgical resection of RPS or subperitoneal sarcomas with curative intent: Surgical key points and technical challenges
When surgical resectability seems not possible
Intraoperative radiation therapy
The role of adjuvant treatment: General principles
Prognostic factors
Outcomes
Guidelines from expert groups
Clinical follow-up and the COVID-19 pandemic era
Management of locally recurrent retroperitoneal or subperitoneal sarcomas
Surgical treatment of recurrent disease
Preoperative therapy in case of recurrent disease
Postoperative therapy in case of recurrent disease
Follow-up or recurrent disease
Consensus-based treatment recommendations currently available
Guidelines currently in use for clinical management of abdominopelvic sarcoma (English language)
References
Chapter 26 Expertise Area 3.5: Rare renal tumour surgery
Abstract
Introduction
General considerations
Malignant renal tumours
Benign tumours
Long-term outcomes
Conclusions
References
Index