Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases

E Nigro, M Amicone, D D'Arco, G Sellitti, O De Marco… - Genes, 2023 - mdpi.com
Polycystic Kidney Diseases (PKDs) consist of a genetically and phenotypically
heterogeneous group of inherited disorders characterized by numerous renal cysts. PKDs …

Atypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra

F Barbey, M Maillard, V Cina, F Fakhouri - Journal of Nephrology, 2023 - Springer
In 2012, a 40-year-old woman was referred to our hospital following the incidental
identification of renal and hepatic cysts via an abdominal computed tomography. This exam …