Characteristics of patients with autosomal polycystic kidney disease reaching kidney failure by age 40.

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Tác giả: Bert Bammens, Detlef Bockenhauer, Abdul Hamid Borghol, Fouad T Chebib, Maroun Chedid, Angelique Dachy, Christian Hanna, Peter C Harris, Francois Jouret, Djalila Mekahli, Pieter Schellekens, Sarah R Senum, Byron H Smith, Stijn Wigerinck

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Germany : Pediatric nephrology (Berlin, Germany) , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 752821

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 (n 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.
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