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Published on: June 23, 2015
Characteristics of patients with autosomal polycystic kidney disease reaching kidney failure by age 40
Stijn Wigerinck1,2, Pieter Schellekens1,3, Byron H Smith4
1PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) can lead to early kidney failure (KF) by age 40. Early hypertension and urological events are key factors in this rapid ADPKD progression, highlighting the need for vigilant monitoring.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) exhibits significant genetic and phenotypic variability.
- Kidney failure (KF) in ADPKD occurs across a broad age range, necessitating identification of factors driving rapid progression.
- This study focuses on the phenotypic characteristics of a multicenter cohort experiencing early-onset KF before age 40.
Purpose of the Study:
- To describe the phenotypic characteristics of ADPKD patients with early-onset kidney failure (KF) by age 40.
- To compare the prevalence of risk factors in this cohort with established ADPKD cohorts experiencing KF after age 40.
- To investigate the longitudinal impact of early hypertension and urological events on KF risk in ADPKD.
Main Methods:
- Retrospective, multicenter cohort study of 199 rapidly progressive ADPKD patients.
- Comparison of risk factor prevalence with 6,782 patients from nine existing ADPKD cohorts with KF after age 40.
- Analysis of the longitudinal influence of early hypertension and urological events on KF development.
Main Results:
- Median age at ADPKD diagnosis was 22.3 years; median age of KF was 35.6 years.
- Hypertension was present in 68.1% of cases, with early-onset hypertension linked to accelerated KF.
- Urological events, including gross hematuria (30.4%), were present in 60.1% of cases. Extrarenal manifestations were less common than in other cohorts.
Conclusions:
- Identified a cohort of ADPKD patients experiencing accelerated disease progression and KF before age 40.
- High prevalence of early-onset hypertension and urological events in this cohort.
- Emphasizes the critical importance of early and consistent blood pressure monitoring in managing ADPKD progression.
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.
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