WCN24-850 A complex pediatric case with homozygous IFT140 variants involving renal cysts: a comprehensive analysis to guide diagnosis and patient care

Polycystic kidney disease (PKD) is part of a genetically heterogeneous group of conditions called ciliopathies recognized as the most frequent inherited disorder leading to chronic kidney disease (CKD). The PKD1 and PKD2 genes are the main contributors to the autosomal dominant PKD (ADPKD) form typically observed in adults. In contrast, the PKHD1 gene is responsible for the autosomal recessive PKD form (ARPKD) that is generally diagnosed in utero or during the first months of life. Recently, mono-allelic, loss-of-function variants in IFT140, a core component required for retrograde transport in cilia, have been described as the third most common gene associated with the ADPKD spectrum with a mild phenotype.