Imaging Approaches to Patients With Polycystic Kidney Disease

doi:10.1016/j.semnephrol.2011.05.003

Seminars in Nephrology

Volume 31, Issue 3, May 2011, Pages 237-244

https://doi.org/10.1016/j.semnephrol.2011.05.003 Get rights and content

Summary

Imaging is an important approach to diagnosis, monitoring, and predicting outcomes for patients with autosomal-dominant polycystic kidney disease. This article reviews three common clinical imaging techniques, ultrasonography, computed tomography, magnetic resonance imaging, and their role in the management of autosomal-dominant polycystic kidney disease. Ultrasonographic criteria for diagnosis in children and adults are reviewed. Total kidney volume, as measured by magnetic resonance imaging, is suggested as an important potential marker to determine disease progression and overall prognosis. Renal blood flow and a novel approach to interpreting noncystic renal parenchyma by computed tomography images are other innovative imaging approaches described.

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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Diagnostic and Prognostic Biomarkers in Autosomal Dominant Polycystic Kidney Disease
2017, Biomarkers of Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development and continued growth of multiple renal cysts. Ongoing cyst development and expansion results in ultimate loss of renal function. However, the course of ADPKD progression is extremely variable both between and even within families, with end-stage renal disease (ESRD) occurring between the 4th and 9th decades of life in most patients. Therefore, a prognostic biomarker predicting the disease course at an early age would be helpful for patient counseling as well as selecting those patients most likely to benefit from an intervention. In addition, a biomarker that could serve as a surrogate endpoint in clinical trials testing new therapeutic interventions would reduce the necessary trial cost and duration. Nevertheless, exploration of robust biomarkers in ADPKD is still in its infancy. In this chapter we review the current understanding of genetic, imaging, serum, and urinary biomarkers in ADPKD with emphasis on their application for diagnosis and prediction of prognosis.
KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Imaging Approaches for Diagnosis
2015, Seminars in Nephrology
Citation 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
2015, American Journal of Kidney Diseases
Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially life-threatening monogenic disorder in humans, characterized by progressive development and expansion of fluid-filled cysts in the kidneys and other organs. Ongoing cyst growth leads to progressive kidney enlargement, whereas kidney function remains stable for decades as a result of hyperfiltration and compensation by unaffected nephrons. Kidney function irreversibly declines only in the late stages of the disease, when most of the parenchyma is lost to cystic and fibrotic tissue and the remaining compensatory capacity is overwhelmed. Hence, conventional kidney function measures, such as glomerular filtration rate, do not adequately assess disease progression in ADPKD, especially in its early stages. Given the recent development of potential targeted therapies in ADPKD, it has become critically important to identify relevant biomarkers that can be used to determine the degree of disease progression and evaluate the effects of therapeutic interventions on the course of the disease. We review the current evidence to provide an informed perspective on whether total kidney volume (TKV) is a suitable biomarker for disease progression and whether TKV can be used as an efficacy end point in clinical trials. We conclude that because cystogenesis is the central factor leading to kidney enlargement, TKV appears to be an appropriate biomarker and is gaining wider acceptance. Several studies have identified TKV as a relevant imaging biomarker for monitoring and predicting disease progression and support its use as a prognostic end point in clinical trials.
Short-Term Dapagliflozin Administration in Autosomal Dominant Polycystic Kidney Disease—A Retrospective Single-Arm Case Series Study
2023, Journal of Clinical Medicine
Severity of polycystic kidney disease revealed by multiparametric MRI
2023, Magnetic Resonance in Medicine
Accuracy, 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

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Imaging Approaches to Patients With Polycystic Kidney Disease

Summary

Section snippets

Imaging to Obtain a Diagnosis of ADPKD

Imaging to Assess Disease Severity and Progression in ADPKD

Potential New Imaging Modalities in ADPKD

Summary

Lancet

Ultrasound Med Biol

Am J Kidney Dis

Am J Kidney Dis

Kidney Int

Kidney Int

Am J Kidney Dis

Kidney Int

Kidney Int

Kidney Int

Kidney Int

Kidney Int

Imaging for the prognosis of autosomal dominant polycystic kidney disease

Nat Rev Nephrol

Clinical practiceAutosomal dominant polycystic kidney disease

N Engl J Med

Polycystic kidney disease

Annu Rev Med

Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis

Radiology

Unified criteria for ultrasonographic diagnosis of ADPKD

J Am Soc Nephrol