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.

MRI in autosomal dominant polycystic kidney disease

“…19 In individuals <30 years old with a family history of ADPKD confirmed by PKD1/2 gene testing, MRI had both a sensitivity and specificity of 100% when using a total of >10 kidney cysts as a screening criterion. 19,20 Prospective kidney donors with a positive family history of ADPKD are recommended to have no more than five renal cysts on MRI to exclude the diagnosis of ADPKD with a higher level of certainty. 20 Although PKD gene testing is the gold standard for the diagnosis of ADPKD, it is expensive and fails to detect a pathogenic mutation in~10% of ADPKD patients.…”

“…19,20 Prospective kidney donors with a positive family history of ADPKD are recommended to have no more than five renal cysts on MRI to exclude the diagnosis of ADPKD with a higher level of certainty. 20 Although PKD gene testing is the gold standard for the diagnosis of ADPKD, it is expensive and fails to detect a pathogenic mutation in~10% of ADPKD patients. 21…”

Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease

“…This repository was approved in 2002 by the Institutional Review Board of Weill Cornell Medicine (IRB) and written informed consent was obtained from all subjects meeting inclusion criteria: age = 18-99 years with ADPKD diagnosed based upon Ravine/Pei criteria. [14][15][16] Subjects refusing to sign consent were excluded.…”

Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History

“…Patients with childhood-onset PKD were not included. PKD was diagnosed when at least 10 cysts were detected in each of the right and left kidneys on CT or MRI [8]. A patient was defined as having no apparent family history if it was unclear whether or not his/her parents had cystic kidney disease.…”