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Imaging-based diagnosis of autosomal dominant polycystic kidney disease.

ABSTRACT: The clinical use of conventional ultrasonography (US) in autosomal dominant polycystic kidney disease (ADPKD) is currently limited by reduced diagnostic sensitivity, especially in at-risk subjects younger than 30 years of age. In this single-center prospective study, we compared the diagnostic performance of MRI with that of high-resolution (HR) US in 126 subjects ages 16-40 years born with a 50% risk of ADPKD who underwent both these renal imaging studies and comprehensive PKD1 and PKD2 mutation screening. Concurrently, 45 healthy control subjects without a family history of ADPKD completed the same imaging protocol. We analyzed 110 at-risk subjects whose disease status was unequivocally defined by molecular testing and 45 unaffected healthy control subjects. Using a total of >10 cysts as a test criterion in subjects younger than 30 years of age, we found that MRI provided both a sensitivity and specificity of 100%. Comparison of our results from HR US with those from a previous study of conventional US using the test criterion of a total of three or more cysts found a higher diagnostic sensitivity (approximately 97% versus approximately 82%) with a slightly decreased specificity (approximately 98% versus 100%) in this study. Similar results were obtained in test subjects between the ages of 30 and 40 years old. These results suggest that MRI is highly sensitive and specific for diagnosis of ADPKD. HR US has the potential to rival the diagnostic performance of MRI but is both center- and operator-dependent.

SUBMITTER: Pei Y

PROVIDER: S-EPMC4341484 | biostudies-other | 2015 Mar

REPOSITORIES: biostudies-other

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Imaging-based diagnosis of autosomal dominant polycystic kidney disease.

Pei York Y Hwang Young-Hwan YH Conklin John J Sundsbak Jamie L JL Heyer Christina M CM Chan Winnie W Wang Kairong K He Ning N Rattansingh Anand A Atri Mostafa M Harris Peter C PC Haider Masoom A MA

Journal of the American Society of Nephrology : JASN 20140729 3

The clinical use of conventional ultrasonography (US) in autosomal dominant polycystic kidney disease (ADPKD) is currently limited by reduced diagnostic sensitivity, especially in at-risk subjects younger than 30 years of age. In this single-center prospective study, we compared the diagnostic performance of MRI with that of high-resolution (HR) US in 126 subjects ages 16-40 years born with a 50% risk of ADPKD who underwent both these renal imaging studies and comprehensive PKD1 and PKD2 mutatio ...[more]

PMID: 25074509

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Project description:BackgroundProgression of autosomal dominant polycystic kidney disease (ADPKD) is highly variable, with some patients progressing rapidly to end-stage renal disease (ESRD). Abdominal imaging is an important modality for verifying diagnosis in patients at risk for rapidly progressing ADPKD, targeting them for early treatment that could slow onset of ESRD. Published literature is limited on the real-world abdominal imaging utilization patterns in ADPKD.MethodsA retrospective healthcare administrative claims analysis examining abdominal imaging scans occurring from January 1, 2014, through June 30, 2017, was conducted using the IBM MarketScan® commercial and Medicare supplemental databases. Patients in the United States who were at least 18 years old and had at least 1 inpatient claim or 2 outpatient claims (with different dates of service) with an ADPKD diagnosis code, as defined by the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM codes 753.12 [polycystic kidney, unspecified type] and 753.13 [polycystic kidney, autosomal dominant] and/or Tenth Revision (ICD-10-CM codes Q61.2 [polycystic kidney, adult type] and Q61.3 [polycystic kidney, unspecified]) were included.ResultsOf the 4637 patients with ADPKD (mean age, 51.2 years [SD = 15.52]), 59% had ≥1 abdominal imaging scan. Of these patients, 46% had ≥1 computed tomography (CT) scan, 25% had ≥1 ultrasound, 10% had ≥1 magnetic resonance imaging scan. Among the 1754 patients (38%) with chronic kidney disease (CKD) stage information, CT imaging was more frequent in later stages (31% stage 1 versus 68% stage 5). The proportion of patients undergoing at least 1 CT or MRI scan increased with disease severity (37% in stage 1, 42% in stage 2, 48% in stage 3, 56% in stage 4, and 71% in stage 5).ConclusionResults of this analysis support the need for further investigation into abdominal imaging utilization in managing patients with ADPKD. Future research could clarify barriers and increase access to imaging, which has the potential to inform risk stratification, help patients delay dialysis or transplantation associated with ESRD, and help health systems avoid the costs associated with ESRD.

Project description:IntroductionIn the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups.MethodsThis multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5-18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV.ResultsMedian (Q1-Q3) age of the patients was 6.0 (2.0-10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, p = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes (p > 0.05 for all).DiscussionThis study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies.

Project description:Background and objectivesThe progression of polycystic liver disease is not well understood. The purpose of the study is to evaluate the associations of polycystic liver progression with other disease progression variables and classify liver progression on the basis of patient's age, height-adjusted liver cystic volume, and height-adjusted liver volume.Design, setting, participants, & measurementsProspective longitudinal magnetic resonance images from 670 patients with early autosomal dominant polycystic kidney disease for up to 14 years of follow-up were evaluated to measure height-adjusted liver cystic volume and height-adjusted liver volume. Among them, 245 patients with liver cyst volume >50 ml at baseline were included in the longitudinal analysis. Linear mixed models on log-transformed height-adjusted liver cystic volume and height-adjusted liver volume were fitted to approximate mean annual rate of change for each outcome. The association of sex, body mass index, genotype, baseline height-adjusted total kidney volume, and Mayo imaging class was assessed. We calculated height-adjusted liver cystic volume ranges for each specific age and divided them into five classes on the basis of annual percentage increase in height-adjusted liver cystic volume.ResultsThe mean annual growth rate of height-adjusted liver cystic volume was 12% (95% confidence interval, 11.1% to 13.1%; P<0.001), whereas that for height-adjusted liver volume was 2% (95% confidence interval, 1.9% to 2.6%; P<0.001). Women had higher baseline height-adjusted liver cystic volume than men, but men had higher height-adjusted liver cystic volume growth rate than women by 2% (95% confidence interval, 0.4% to 4.5%; P=0.02). Whereas the height-adjusted liver cystic volume growth rate decreased in women after menopause, no decrease was observed in men at any age. Body mass index, genotype, and baseline height-adjusted total kidney volume were not associated with the growth rate of height-adjusted liver cystic volume or height-adjusted liver volume. According to the height-adjusted liver cystic volume growth rate, patients were classified into five classes (number of women, men in each class): A (24, six); B (44, 13); C (43, 48); D (28, 17); and E (13, nine).ConclusionsCompared with height-adjusted liver volume, the use of height-adjusted liver cystic volume showed greater separations in volumetric progression of polycystic liver disease. Similar to the Mayo imaging classification for the kidney, the progression of polycystic liver disease may be categorized on the basis of patient's age and height-adjusted liver cystic volume.

Dataset Information

Imaging-based diagnosis of autosomal dominant polycystic kidney disease.

Publications

Imaging-based diagnosis of autosomal dominant polycystic kidney disease.

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