[en] [en] BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) demonstrates broad genetic and phenotypic variability, with kidney failure (KF) occurring across a wide age spectrum. Despite several predictor tools, there remains a need to identify factors associated with rapid disease progression. This study describes the phenotypic characteristics of a multicentric cohort experiencing early-onset KF by age 40.
METHODS: This retrospective, multicenter cohort study analyzed longitudinal data of rapidly progressive ADPKD patients (n = 199). The prevalence of established risk factors was compared to nine existing ADPKD cohorts (ntotal = 6782) with KF after 40 years of age. We examined the longitudinal impact of early hypertension and urological events on the risk of developing KF.
RESULTS: The median age at ADPKD diagnosis was 22.3 years (IQR, 16.5-28.6) and median age of KF was 35.6 years (31.7-38.0). Hypertension was observed in 68.1% of cases, with early-onset hypertension being more common among those with accelerated progression towards KF. Urological events were present in 60.1% of cases, with a high burden of gross hematuria (30.4%). Existing ADPKD cohorts had a mean age of 45.5 years, with weighted prevalences of hypertension (71.1%), kidney stones (22.4%), hematuria (22.9%), and urinary tract infections (22.8%). Extrarenal manifestations were less prevalent compared to other ADPKD cohorts.
CONCLUSION: This study outlines a cohort of ADPKD patients with accelerated disease progression, reaching KF before age 40. Hypertension and urological events were highly prevalent at a young age, emphasizing the importance of early and regular blood pressure monitoring.
Disciplines :
Urology & nephrology
Author, co-author :
Wigerinck, Stijn; PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium ; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
Schellekens, Pieter; PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium ; Nephrology and Renal Transplantation Research Group, Dept. of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium
Smith, Byron H; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA
Hanna, Christian; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA ; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
Dachy, Angélique ; Université de Liège - ULiège > Département des sciences cliniques > Médecine générale ; PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
Chedid, Maroun; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA
Borghol, Abdul Hamid; Division of Nephrology and Hypertension, Mayo Clinic, Jacksonville, FL, USA
Senum, Sarah R; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA ; Department of Artificial Intelligence & Informatics, Mayo Clinic, Rochester, MN, USA
Bockenhauer, Detlef; PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium ; Department of Pediatric Nephrology, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium
Harris, Peter C; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA
Jouret, François ; Université de Liège - ULiège > Département des sciences cliniques > Néphrologie
Bammens, Bert; PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium ; Nephrology and Renal Transplantation Research Group, Dept. of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium
Chebib, Fouad T; Division of Nephrology and Hypertension, Mayo Clinic, Jacksonville, FL, USA
Mekahli, Djalila ; PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium. djalila.mekahli@uzleuven.be ; Department of Pediatric Nephrology, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium. djalila.mekahli@uzleuven.be
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