Publications by authors named "Violetta Antal-Konya"
Kidney Int Rep
August 2024
Article Synopsis
- - The study focuses on the impact of Hepatocyte Nuclear Factor 1-beta (HNF1B) gene variants and chromosome 17q12 deletion (17q12del) on kidney disease progression, particularly chronic kidney disease (CKD), in a large cohort of 521 patients.
- - Findings reveal that patients with the 17q12del experience a significant delay in the progression to CKD stage 3 compared to those with other HNF1B variants, with specific mutations in the DNA-binding domains correlating with even better outcomes.
- - Additionally, the 17q12del is linked to lower magnesium levels (hypomagnesemia) and higher likelihood of elevated uric acid levels (hyperuric
