SAT-463 ADPedKD: A Global Online Platform on the management of Children with Autosomal Dominant Polycystic Kidney Disease

Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic cause of renal failure. For long, it was regarded as an adult-onset disease but over the last decade, literature on pediatric ADPKD is merging. In 2019, the first consensus statement on the diagnosis and management of ADPKD in childhood was published. However, most of these recommendations are based on small-cohort studies, lacking long-term follow-up and therefore rendering weak evidence quality. To fill this gap, we initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for a deep and long-term characterization. Global ADPedKD is an international multicenter observational web-based register study focusing on childhood-diagnosed ADPKD. Patients diagnosed with ADPKD, based on genetic analysis and/ or a positive familial history and with renal cysts on imaging, before the age of 19 years are eligible for inclusion. A major strength of ADPedKD is the collaboration of 6 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe (United Kingdom), North America and South America. Australia and the United Kingdom already have their separate source databases, namely Australasian Registry of Rare and genetic Kidney disease (ARRK) and National Registry of Rare Kidney Diseases (RaDaR). In North America, the ADPedKD Registry will be implemented under the auspices of the NIH-funded Hepato-Renal Fibrocystic Disease (HRFD) Database. After written informed consent, clinical patient data including genetics, radiologic and laboratory findings as well as therapeutic interventions, are pseudonymously introduced in our secured web-based database (www.adpedkd.org), both retrospectively and prospectively. There are currently 73 centers (Figure 1) participating in the ADPedKD initiative, with an inclusion of 424 (205/219 male/female) children. The mean (+/- SD) age of the diagnosis was 5.9 +/- 5.4 years. Reasons for diagnosis were prenatal diagnosis, a postnatal accidental finding, family screening, a presenting feature or unknown in N (%): 24 (5.6), 103 (27.6%), 160 (42.9%), 66 (17.7%), 44 (11.8%) respectively. Presenting features were most frequently an abnormal prenatal ultrasound (42.4%), urinary tract infection (13.6%), hematuria (10.6%) and flank/back pain or hypertension (both 6.1%). In less than half (40.8%) of the population, genetic analysis was performed, showing in the vast majority a PKD1 mutation. The ADPedKD initiative is the first and the largest international pediatric ADPKD registry that will provide evidence for the development of unified diagnostic, follow-up and treatment recommendations regarding modifiable disease factors.