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Updated: Mar 23, 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
Optimising the management of polycystic kidney disease
Insights
Polycystic kidney disease (PKD) is an inherited kidney disorder causing chronic kidney disease and renal failure. Early diagnosis and monitoring of risk factors like hypertension are crucial for managing PKD progression.
Area of Science:
- Nephrology
- Genetics
- Inherited Renal Disorders
Background:
- Polycystic kidney disease (PKD) is the most prevalent inherited renal disorder, leading to chronic kidney disease.
- It affects 1:500 to 1:1,000 individuals, with up to 10% of end-stage renal disease (ESRD) patients having a genetic cause like PKD.
- A family history is not always present, occurring in only 75% of affected individuals.
Purpose of the Study:
- To summarize the key aspects of Polycystic Kidney Disease (PKD).
- To highlight the clinical features, progression, and diagnosis of PKD.
- To outline associated systemic complications and risk factors for disease advancement.
Main Methods:
- Review of existing literature on Polycystic Kidney Disease (PKD).
- Analysis of clinical features, inheritance patterns, and prevalence data.
- Identification of diagnostic criteria and risk factors for progression.
Main Results:
- PKD is an autosomal dominant inherited disorder characterized by progressive cyst growth, kidney enlargement, and declining kidney function (eGFR).
- Common symptoms include visible hematuria, loin pain, urinary tract infections (UTI), and hypertension.
- Risk factors for progression include early diagnosis, large kidney volume, rapid cyst growth, hypertension, male gender, and visible hematuria.
- Fifty percent of individuals require renal replacement therapy by age 60.
- Multisystemic manifestations include liver cysts (80%), cerebral aneurysms (8%), and mitral valve prolapse (25%).
Conclusions:
- Polycystic kidney disease (PKD) is a significant cause of inherited chronic kidney disease and ESRD.
- Early identification of risk factors and proactive management are essential for patients with PKD.
- PKD is a systemic disease with potential complications affecting multiple organs beyond the kidneys.
Abstract:
Polycystic kidney disease (PKD) is the most common inherited renal disorder that results in chronic kidney disease. PKD has an autosomal dominant pattern of inheritance. The prevalence is between 1:500 and 1:1,000. Up to 10% of adults with end-stage renal disease (ESRD) have a genetic disorder such as PKD. A family history of PKD may be absent in up to 25% of affected individuals. The most common clinical features are visible haematuria, loin pain, UTI and hypertension. The typical clinical course is a progressive increase in the number and size of renal cysts associated with gradual loss of kidney function (falling eGFR). Risk factors for progression include: younger age at diagnosis; large kidney volume; rapid cyst growth; hypertension; male gender; and visible haematuria. Approximately 50% of individuals with PKD will require renal replacement therapy by the sixth decade of life. PKD is a multisystem disorder associated with multiple bilateral renal cysts, slowly increasing kidney size and progressive chronic kidney disease. Diagnosis of PKD is confirmed by ultrasound showing the presence of multiple kidney cysts. More than 80% will also have multiple liver cysts, which can lead to local pressure effects. Cerebral haemorrhage, secondary to rupture of a berry aneurysm, occurs in up to 8% of individuals. Mitral valve prolapse occurs in up to 25% of patients.
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