Imaging Approaches to Patients With Polycystic Kidney Disease
Section snippets
Imaging to Obtain a Diagnosis of ADPKD
Mutations on at least two genes are responsible for ADPKD. In 85% of individuals, mutations in the PKD1 gene on chromosome 16 (16p13.3-p13.1) are causative; most of the rest are caused by mutations in the PKD2 gene on chromosome 4 (4q21-q23).2 The mutations in PKD1 or PKD2 set into motion a complex array of molecular processes owing to abnormal polycystin 1 and 2 complex function that ultimately lead to the aberrant proliferation of tubular epithelia cells, the expansion of the tubular lumen,
Imaging to Assess Disease Severity and Progression in ADPKD
Although ultrasound is currently the imaging modality of choice for a diagnosis of ADPKD, its use for assessing disease progression is limited. Ultrasonography is highly operator-dependent and produces images that are less sensitive and reproducible than CT or MRI. In addition, ultrasound cannot reliably detect small but significant changes in kidney size or small cysts that are less than 1 cm in diameter. Ultrasound-based measurements of kidney volume are calculated by using parameters based
Potential New Imaging Modalities in ADPKD
Activation of the renin-angiotensin aldosterone system and decreases in renal blood flow are thought to contribute to the pathogenesis of hypertension in ADPKD.24, 25 Classic measurements of renal blood flow (RBF) as measured by para-aminohippurate clearance have been performed in ADPKD patients.26 These measures are accurate but still limited because of the logistical difficulties of continuous administration of para-aminohippurate and inadequate estimation of para-aminohippurate extraction by
Summary
In summary, imaging plays a central role in the diagnosis, prognostic staging, and management of patients with ADPKD. Currently, ultrasound provides the most cost-effective and reliable approach to diagnosing at-risk individuals with ADPKD. However, for monitoring disease progression over short periods of time, more accurate and reliable measures of total kidney volume such as MRI are more appropriate imaging approaches. Novel imaging assessments of reductions in RBF using MRI or decreased
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Cited by (43)
Diagnostic and Prognostic Biomarkers in Autosomal Dominant Polycystic Kidney Disease
2017, Biomarkers of Kidney DiseaseKHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Imaging Approaches for Diagnosis
2015, Seminars in NephrologyCitation Excerpt :Ultrasound is inexpensive and noninvasive. It is considered the first-line modality across all age groups.15,16 Several large studies have examined the sensitivity and specificity (SPEC) of ultrasound diagnosis using genetic linkage studies as the gold standard.
Total kidney volume in autosomal dominant polycystic kidney disease: A biomarker of disease progression and therapeutic efficacy
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2023, Journal of Clinical MedicineSeverity of polycystic kidney disease revealed by multiparametric MRI
2023, Magnetic Resonance in MedicineAccuracy, Reproducibility and User Experience With Standardized Instructions for Measurement of Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease
2023, Canadian Association of Radiologists Journal