1 results match your criteria: "University Hospital Ostrava and Medical Faculty of the University Ostrava[Affiliation]"
The First Pediatric Case of an IFT140 Heterozygous Deletion Causing Autosomal Dominant Polycystic Kidney Disease: Case Report.
Case Rep Nephrol Dial
July 2024
Department of Clinical and Molecular Pathology and Medical Genetics, University Hospital Ostrava and Medical Faculty of the University Ostrava, Ostrava, Czech Republic.
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, which is mainly caused by pathogenic variants in two particular genes: and . ADPKD caused by variants in other genes ( or ) is very rare.
Case Report: In a 6-year-old girl examined for abdominal pain, a cystic mass in the upper part of the right kidney was detected during an abdominal ultrasound.