Congenital renal anomalies – cause of liver pathologies

Abstract

Congenital renal anomalies do not solely affect the renal system but can also have significant multisystemic implications, particularly involving the liver. Over the past few decades, research has increasingly highlighted the etiological connection between these malformations and various hepatic pathologies, especially in the context of rare hereditary disorders. This review aims to synthesize current data on the shared mechanisms linking congenital renal pathology to hepatic dysfunction, with a focus on clinical, diagnostic, and therapeutic implications. Major entities involved include autosomal recessive polycystic kidney disease (ARPKD), congenital renal dysplasia, and syndromes within the CAKUT (Congenital Anomalies of the Kidney and Urinary Tract) spectrum. These conditions are frequently associated with congenital hepatic fibrosis and non-cirrhotic portal hypertension. The underlying pathophysiological mechanisms primarily involve mutations in the PKHD1 gene, which impair primary cilia function and disrupt key cellular signaling pathways such as TGF-β and PDGF, leading to progressive hepatic and renal fibrogenesis. In addition, chronic inflammatory processes and metabolic imbalances contribute to the exacerbation of hepatic dysfunction. Recent advances in hepatic imaging—such as elastography and MR cholangiography—have enabled early detection of hepatic complications. Simultaneously, emerging therapies, including TGF-β inhibitors and personalized genetic strategies, offer new therapeutic perspectives. A comprehensive understanding of the complex interactions between the kidney and liver in the context of congenital malformations is essential for optimizing patient management and preventing the progression of secondary liver disease.