Published on September 23, 2022

Pr Damien Sanlaville (ERN ITHACA), Service de génétique, Hôpital Femme Mère Enfant, Lyon (FR), will provide an introduction to the topic.

Following this, Dr Bruno Ranchin (ERN ERKNet), Pediatric Nephrology Department, Hôpital Femme Mère Enfant, Lyon (FR), will give an overview of the nephrological aspects of the syndrome.

Dr Giovanni Mosiello (ERN eUROGEN and WG leader of SBoD ERN ITHACA), Pediatric Urologist, Ospedale Pediatrico Bambino Gesù, Rome (IT), will then discuss the urological viewpoint.

Finally, Dr Annalisa Scopinaro, President of UNIAMO (the Italian Federation of Rare Diseases and ERN ITHACA ePags Advocate), will present views from the patient organisations.