Weekly issue 2026-W35 ·
Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort.
Plain language
Greek doctors followed 20 children with HNF1B-related cystic kidney disease: almost all had cysts, most carried large gene deletions, and average kidney function held steady over five years — though individual children varied early. Lifelong follow-up still needed.
Clinical note
Retrospective multicenter cohort (n=20, eight Greek centers). 60% copy-number variants (mostly 17q12 microdeletions); cysts 95%, CAKUT 20%, hypomagnesemia 25%; mean eGFR flat over about 5 years with early individual variability. Small and retrospective — monitor magnesium, uric acid and extrarenal features.
Question for your next visit
For my child with HNF1B-related kidney disease, which kidney and blood tests should we review as they grow?