The conference was sponsored by the Rector of MUW and the Center of Excellence for Rare and Undiagnosed Diseases MUW. The event was attended by nephrologists, geneticists, pathologists, specialists in other fields, as well as students. The conference provided an excellent opportunity for knowledge exchange and networking in an interdisciplinary environment.
The most important topics
The first session was devoted to the diagnosis of rare diseases in nephrology, because, as pointed out by Małgorzata Pańczyk-Tomaszewska, MD, PhD, Head of the Department of Pediatrics and Nephrology MUW, who moderated the session, rare diseases in nephrology and other fields cannot do without good genetic diagnostics. The session was opened by Krzysztof Szczałuba, MD, PhD, from the Center of Excellence for Rare and Undiagnosed Diseases MUW and the Department of Medical Genetics MUW, with a lecture on “Nephrological problems in selected rare genetic syndromes - optimization of management.”
The session also featured Dr. Dorota Czapczak of the Genetics Laboratory of the University Center for Laboratory Medicine and the Department of Rare Diseases MUW, who talked about modern genetic diagnostics with a special focus on kidney diseases, as well as Prof. Rafał Płoski of the Department of Medical Genetics MUW, who discussed the role of Whole Exome Sequencing in nephrology diagnosis. The session ended with Prof. Agnieszka Perkowska-Ptasińska from the Department of Pathomorphology MUW with the lecture on histopathological indications for undertaking genetic diagnosis of nephropathy. At the outset, the speaker emphasized that many types of kidney disorders can have a genetic basis, so implementing genetic diagnostics in “kidney” patients is essential.
- In some cancers, we pathologists need to create a so-called integrated diagnosis, which also includes the work of geneticists. Only such joint work is able to lead to the formulation of a final diagnosis. Exactly the same should be the case in nephrology, in a very large group of patients - said Prof. Perkowska-Ptasińska.
The next part of the conference was devoted to glomerulopathies. Here, for example, we talked about advances in the treatment of IgA nephropathy, membranous nephropathy, Pierson syndrome and Alport syndrome. Moderators were Prof. Magdalena Durlik, Head of the Department of Transplantation, Immunology, Nephrology and Internal Diseases, and Prof. Jolanta Małyszko, Head of the Department of Nephrology, Dialysis and Internal Medicine. The last session focused on tubulopathies, podocytopathies and other rare kidney diseases. During it one could hear about hypophosphatemic rickets, chronic kidney disease in children with Sensenbrenner syndrome or pulmonary fibrosis in a dialysis patient, among others. The last session was moderated by Małgorzata Pańczyk-Tomaszewska, MD, PhD, and Małgorzata Mizerska-Wasiak, MD, PhD. Each session ended with interesting discussions.
Prominent experts
The representatives of the departments that make up the Center for the Diagnosis and Treatment of Rare Diseases in Pediatric and Adult Nephrology MUW participated in the symposium as speakers:
- from the Department of Pediatrics and Nephrology MUW: Małgorzata Mizerska-Wasiak, MD, PhD, Dr. Agnieszka Such-Gruchot, Dr. Maria Daniel, Dr. Agnieszka Turczyn, Dr. Karolina Cichoń-Kawa, Piotr Skrzypczyk, MD, PhD, Dr. Agnieszka Szmigielska, Dr. Anna Deja;
- from the Department of Transplantology, Immunology, Nephrology and Internal Diseases MUW: Prof. Magdalena Durlik, Prof. Krzysztof Mucha, Dr. Barbara Moszczuk, Prof. Bartosz Foroncewicz, Mariusz Niemczyk, MD, PhD, Dr. Agnieszka Furmańczyk-Zawiska;
- from the Department of Nephrology, Dialysis and Internal Medicine MUW: Dr. Filip Wantoch-Rekowski, Dr. Weronika Przybyszewska, Dr. Michał Markowski, Longin Niemczyk, MD, PhD, Aleksandra Rymarz, MD, PhD, Dr. Zuzanna Jakubowska, Dr. Maria Kaszyńska;
- as well as Dr. Michał Buczyński from the Department of Heart, Thoracic and Transplant Surgery MUW, who spoke about acute kidney injury after cardiac surgery.
