MODE OF PRESENTATION IN CHILDREN WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
Dr Saleh Alzahrani1, Dr Madeleine Wong1, Mr Anju Ramanayake2, Dr Hugh McCarthy1, Dr Anne Durkan1, Professor Stephen Alexander1
1Department of Nephrology, Centre for Kidney Research, The Children’s Hospital Of Westmead, Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, , Australia, 2School of Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, Australia
Aims: To study the mode of presentation of Autosomal Dominant Polycystic Kidneys in children at risk compared to children with no known risk.
Background: An increasing number of children with suspected or proven ADPKD are now seen within pediatric nephrology. Earlier presentation of this condition may be due to increased access and quality of imaging in this cohort. What age and whether counseling was provided pre-test is not well understood.
Methods: A retrospective medical record review of children identified with (suspected or proven) ADPKD between 2020 and 2024 was undertaken within the Sydney Children’s Hospital Network. Clinical data, including presenting age and symptoms, diagnostic modalities, genetic testing, and pre-diagnosis counseling records, were collected and analyzed.
Results: Out of the 43 patients with childhood-onset ADPKD in our cohort, 34 (79%) had a strong family history of the disease. Interestingly, 20 of these 34 patients (59%) with a known family history were diagnosed incidentally, without prior screening or proper counseling. These incidental diagnoses often occurred during workups for unrelated symptoms such as abdominal pain, constipation, or other non-specific complaints.
Discussion: This study reveals that the diagnosis of ADPKD in children is incidental in a majority of cases (59%) even when there is a known 50% risk. International guidelines do not adequately address this, and there remains a lack of useful resources for prospective parents with ADPKD. The high rate of incidental diagnosis highlights the critical need for increased awareness and screening, particularly among adult nephrology teams caring for ADPKD patients. Identifying this problem will increase patient and clinician awareness and drive the co-development of appropriate resources to enable earlier detection and management of this inherited kidney disorder.
Biography:
Dr. Saleh Alzahrani is a Paediatric Nephrology Honorary Fellow at the Children’s Hospital at Westmead. I completed my medical school and Paediatric Residency training in Saudi Arabia. I am currently pursuing my subspecialty in Paediatric Nephrology. I have a special interest in the Paediatric renal inherited disorders.