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Updated: Jun 7, 2026
Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Diagnosis and management of childhood polycystic kidney disease
William E Sweeney1, Ellis D Avner
1Department of Pediatrics, Children's Hospital Health System of Wisconsin, Milwaukee, WI, USA.
Insights
Differentiating autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) is crucial for early diagnosis and management. Imaging and genetic testing aid in distinguishing these genetic kidney disorders.
Area of Science:
- Nephrology
- Medical Genetics
- Diagnostic Imaging
Background:
- Syndromic disorders can present with renal cysts, necessitating differentiation from inherited polycystic kidney diseases.
- Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the primary genetic causes of enlarged echogenic kidneys.
Purpose of the Study:
- To outline the diagnostic approaches for distinguishing ADPKD and ARPKD from other syndromic renal cystic disorders.
- To emphasize the importance of accurate diagnosis for timely management and therapeutic interventions.
Main Methods:
- Diagnostic imaging modalities including ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI).
- Ultrasound is highlighted as the preferred method for prenatal and early childhood diagnosis due to its safety, cost-effectiveness, and ease of use.
- Clinical evaluation considering ultrasound characteristics, extrarenal abnormalities, and parental screening.
Main Results:
- Imaging studies, particularly ultrasound, can effectively differentiate ADPKD and ARPKD based on characteristic renal and extrarenal findings.
- Differences in ultrasound features and associated abnormalities aid in distinguishing between ADPKD and ARPKD.
- Genetic testing serves as a definitive diagnostic tool when imaging results are equivocal.
Conclusions:
- Accurate differentiation of ADPKD and ARPKD is essential for initiating prompt anticipatory care, such as blood pressure management.
- Early diagnosis facilitates access to emerging therapies and reproductive options like preimplantation genetic diagnosis.
- Advancements in diagnostics and therapeutics offer improved outcomes for patients with ADPKD and ARPKD.
Abstract:
A number of syndromic disorders have renal cysts as a component of their phenotypes. These disorders can generally be distinguished from autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) by imaging studies of their characteristic, predominantly non-renal associated abnormalities. Therefore, a major distinction in the differential diagnosis of enlarge echogenic kidneys is delineating ARPKD from ADPKD. ADPKD and ARPKD can be diagnosed by imaging the kidney with ultrasound, computed tomography, or magnetic resonance imaging (MRI), although ultrasound is still the method of choice for diagnosis in utero and in young children due to ease of use, cost, and safety. Differences in ultrasound characteristics, the presence or absence of associated extrarenal abnormalities, and the screening of the parents >40 years of age usually allow the clinician to make an accurate diagnosis. Early diagnosis of ADPKD and ARPKD affords the opportunity for maximal anticipatory care (i.e. blood pressure control) and in the not-too-distant future, the opportunity to benefit from new therapies currently being developed. If results are equivocal, genetic testing is available for both ARPKD and ADPKD. Specialized centers are now offering preimplantation genetic diagnosis and in vitro fertilization for parents who have previously had a child with ARPKD. For ADPKD patients, a number of therapeutic interventions are currently in clinical trial and may soon be available.
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