HNF1B komt in 158 bronnen samen met nieren en urineleider voor

…30; Accepted 2026 Oct 8; Collection date 2026 Oct. 1. Introduction Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder and the leading genetic cause of chronic kidney disease (CKD) in adulthood. Based on comprehensive European registry and population sequenci…

…00 genes are associated with hereditary kidney disease, which may manifest as isolated kidney issues or as part of a syndrome that also includes extrarenal manifestations. The aim of this study was to identify genetic variants in a group of ten patients who presented with clinical signs suggestive of gen…

…ng author. Contributed equally. Abstract Kidney disease is increasingly linked to dysregulated lipid metabolism, yet the molecular mechanisms driving renal lipotoxicity remain poorly understood. This review elucidates the pivotal role of the hepatic nuclear factor-1 family (HNF-1α and HNF-1β) in renal li…

…e of genetics in the assessment of CKD cases, stressing the need for thorough family history evaluations, consideration of the age of CKD onset, extrarenal symptoms, and the inclusion of genetic testing in the diagnostic process. 36 This review examines the current and emerging role of LRS in the diagnos…