Abstract
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) causes progressive renal damage and is a leading cause of end-stage renal failure. With emerging therapies it is important to devise a method for early detection. We aimed to identify factors from routine clinical data which can be used to distinguish people with a high likelihood of having ADPKD in a primary health care setting.MethodA cross-sectional study was undertaken using data from the Quality Intervention in Chronic Kidney Disease trial extracted from 127 primary care practices in England. The health records of 255 people with ADPKD were compared to the general population. Logistic regression was used to identify clinical features which distinguish ADPKD. These clinical features were used to stratify individual risk using a risk score tool.ResultsRenal impairment, proteinuria, haematuria, a diastolic blood pressure over 90 mmHg and multiple antihypertensive medications were more common in ADPKD than the general population and were used to build a regression model (area under the receiver operating characteristic curve; 0.79). Age, gender, haemoglobin and urinary tract infections were not associated with ADPKD. A risk score (range −3 to +10) of ≥0 gave a sensitivity of 70.2% and specificity 74.9% of for detection.ConclusionsStratification of ADPKD likelihood from routine data may be possible. This approach could be a valuable component of future screening programs although further longitudinal analyses are needed.
Highlights
Autosomal dominant polycystic kidney disease (ADPKD) causes progressive renal damage and is a leading cause of end-stage renal failure
Renal impairment, proteinuria, haematuria, a diastolic blood pressure over 90 mmHg and multiple antihypertensive medications were more common in ADPKD than the general population and were used to build a regression model
Gender, haemoglobin and urinary tract infections were not associated with ADPKD
Summary
Autosomal dominant polycystic kidney disease (ADPKD) causes progressive renal damage and is a leading cause of end-stage renal failure. Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of end-stage renal disease (ESRD) and may result in the need for renal replacement therapy [1]. ADPKD is the most common form of polycystic kidney disease and one of the most common genetic diseases with a reported prevalence of around 1 in 400 to 1000 and accounts for 7-10% of patients with end-stage renal disease (ESRD) [2,3,4,5]. It is genetically heterogeneous with 80-85% of cases due to mutations in PKD1 with the remainder due to mutations in PKD2. Longitudinal studies in people with ADPKD demonstrate ACEI use is associated with slower progression of renal disease and increased duration of survival [12,13] the results of the HALT study on standard and low blood pressure targets achieved using RAAS blockade on disease progression are awaited [14]
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