Elhussein A E Elhassan, Patrick O'Kelly, Kane E Collins, Omri Teltsh, Francesca Ciurli, Susan L Murray, Claire Kennedy, Stephen F Madden, Katherine A Benson, Gianpiero L Cavalleri, Peter J Conlon
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic nephropathy and has striking familial variability of disease severity. METHODS: To better comprehend familial phenotypic variability, we analyzed clinical and pedigree data on 92 unrelated ADPKD kindreds with ≥2 affected individuals ( N = 292) from an Irish population. All probands underwent genetic sequencing. Age at onset of kidney failure (KF), decline in estimated glomerular filtration rate (eGFR), predicting renal outcome in polycystic kidney disease (PROPKD) score, and imaging criteria were used to assess and grade disease severity as mild, intermediate, or severe...
March 2024: KI Reports