Diseases that are rare or of low prevalence pose challenges to provision of high-quality care because of limited available knowledge and sparse good-quality evidence regarding uncommon presentations, mechanisms of disease, and optimal treatments. Approximately 80% of rare diseases are of genetic origin and 70% start in childhood, and these conditions significantly impact paediatric, adolescent and adult patients who often face a diagnostic odyssey in their search for answers to questions.
European Reference Networks (ERNs) are virtual networks that connect healthcare professionals and patients across the European Union (EU) and Norway and share a common aim of pooling knowledge and resources and sharing discussions to try and improve diagnosis, treatments and outcomes with provide high-quality care. The premise is clear: if individual clinicians encounter a couple of rare conditions a year, they are unlikely to accrue enough experience and knowledge to provide high quality care. There are 24 ERNs involving more than 900 highly specialised healthcare units from over 300 hospitals which are arranged in a hub and spoke model that centralises complex care. ERNs being an EU, UK healthcare professionals ceased to be part of the ERNs after the withdrawal from the EU in December 2020.
ERN eUROGEN is the ERN for rare urogenital diseases and complex conditions affecting the reproductive and urinary tracts. It provides access to a clinical reference network through a secure online platform that allows discussion of rare and complex cases. Importantly, the ERN works collaboratively with patient advocacy groups (ePAGs) who play a crucial role and are the network’s co-founders, co-authors and co-chairs of working committees and working groups. The text of Rare and Complex Urology was produced and published by eUROGEN in 2024 and summarises the vast ongoing work under this initiative. The first 72 pages set out the eUROGEN collaborations, innovations, and development of guidelines and clinical decision support tools. This is followed by the clinical section which is arranged by three workstreams based on rare congenital uro-rectal-genital anomalies, functional conditions requiring highly specialised surgery, and rare urogenital tumours. The expertise areas start with chapters on complex genital reconstructions in patients with heterogeneous differences of sex development, bladder exstrophy / epispadias and then on to a wide range of subjects which include rare urological stones, non-syndromic urogenital tract malformations such as spina bifida, complex or complicated pelvic floor disorders, posterior urethral valves, rare conditions of the female urethra, and rare urogenital tumours including abdominopelvic sarcomas and rare renal tumours. Most chapters are well illustrated with colour photographs, explanatory line diagrams and algorithms.
This is certainly a must-have reference for every urology departmental library.
