1 - Pediatric Nephrology Unit, Centro Hospitalar Universitário de Lisboa Central, Portugal
2 - Genetics Department, Centro Hospitalar Universitário de Lisboa Central, Portugal
- 53th Annual Scientific Meeting of the European Society for Paediatric Nephrology, Amsterdão, 16/19/9/2022, Poster
- Pediatric Nephrology (2021) 36:3333.
Introduction: Autosomal-dominant polycystic kidney disease (ADPKD) affects nearly 12.5 million people worldwide, with prevalence estimates between 1 in 400-2500. Most patients develop symptomatic disease in adult age, but 2-5% of all ADPKD patients present during childhood. Data on the natural history and prognostic factors for childhood ADPKD are lacking.
Material and methods: Longitudinal retrospective study from 2009 to 2020. Logistic regression model to evaluate predictive factors for renal injury markers.
Results: Data from 59 children and adolescents with ADPKD were analysed, 34 (57.6%) boys and 25 (42.4%) girls. From the 37 who completed genetic testing, 32 had mutations in ADPKD-related genes: 26 (70.3%) in PKD1, 2 (5.4%) in PKD2, 2 (5.4%) in PKD1/TSC associated with Tuberous Sclerosis Complex and 2 (5.4%) in GANAβ. Thirty-six (61.0%) patients met at least one renal outcome: 13 (22.0%) hypertension, 10 (17.0%) albuminuria, 22 (37.3%) reduced glomerular filtration rate (GFR) classifying to stage 2 CKD; of these, 10 (16.9%) were obese or overweight. Thirteen (22.0%) had at least one episode of hematuria and 5 (8.5%) presented with hyperuricemia. Median ages of onset for renal outcomes were 12.0 years old for hypertension, 12.5 for albuminuria, 13.0 for hematuria, 14.5 for decreased GFR and 15.0 for hyperuricemia. Obesity/overweight was a predictive factor for hypertension (p=0.03), but not for decreased GFR (p=0.94), albuminuria (p=0.48) or for the composite renal outcome (p=0.24).
Conclusions: More than half of the patient cohort met the composite renal outcome at the age of 12. Nearly one fifth of the patients were obese or overweight, which was found to be the only predictive factor for hypertension, although not predictive of the other studied renal outcomes. While screening and follow-up of adult patients’ relatives during childhood remains controversial, these results support the need to identify and monitor these patients closely since childhood.
Keywords: Autosomal-dominant polycystic kidney disease