Table of contents
Autosomal dominant polycystic kidney disease
Background
Overview
Definition
ADPKD is a genetic disorder characterized by the growth of numerous cysts in the kidneys, leading to enlarged kidneys and often resulting in kidney failure.
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Pathophysiology
The pathophysiology of ADPKD is primarily linked to mutations in two genes: PKD1 and PKD2. These mutations lead to abnormal polycystin proteins, which are believed to play a role in cell signaling and regulation of cell growth and division.
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Epidemiology
The point prevalence of ADPKD in the European Union is estimated at < 5 per 100,000 population, and it is estimated to affect 12 million individuals worldwide.
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Disease course
Clinically, ADPKD is characterized by progressive kidney enlargement due to cyst growth. Other common symptoms include abdominal pain, hypertension, and hematuria. As the disease progresses, patients are at an increased risk of renal complications, including CKD and ESRD. It is also associated with extrarenal complications such as liver cysts, intracranial aneurysms, and cardiac valvular disease.
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Prognosis and risk of recurrence
The primary risk factor is a family history of the disease, as it is an inherited disorder.
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Guidelines
Key sources
The following summarized guidelines for the evaluation and management of autosomal dominant polycystic kidney disease are prepared by our editorial team based on guidelines from the European Association for the Study of the Liver (EASL 2022), the United Kingdom Kidney Association (UKKA/BAPN 2019), the Ministry of Health, Labour and Welfare of Japan (MHLW/JSN 2016), and the Spanish Working Group on ...
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Screening and diagnosis
Diagnostic investigations
Diagnostic imaging: as per SWG-IKD 2014 guidelines, obtain CT in uncertain cases or in patients with suspicion of associated renal disease, such as stones or tumor.
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Genetic testing
Evaluation for cyst infection
Screening for polycystic liver disease
Screening for intracranial aneurysm
Screening for valvular heart disease
Medical management
General principles: as per SWG-IKD 2014 guidelines, assess cardiovascular risk and treat all modifiable cardiovascular risk factors according to the CKD guidelines.
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Tolvaptan
Antihypertensive therapy
Management of pain
Management of cyst bleeding
Management of cyst infection
Management of kidney stones
Nonpharmacologic interventions
Lifestyle modifications
As per SWG-IKD 2014 guidelines:
Encourage lifestyle changes (maintenance of ideal body weight, regular aerobic exercise and a diet limited to a maximum intake of 6 g of salt daily) to prevent and to treat hypertension as in patients with essential hypertension.
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Advise patients with large polycystic kidneys to avoid contact sports and situations carrying a high risk of abdominal trauma.
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Water intake
Dietary protein restriction
Therapeutic procedures
Cyst aspiration
As per JSN/MHLW 2016 guidelines:
Do not aspirate renal cysts to improve renal function in patients with ADPKD.
D
Consider aspirating renal cysts for the management of disease-related chronic pain or abdominal distention, for diagnostic purposes and the treatment of infected cysts.
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Transarterial embolization
Dialysis
Surgical interventions
Nephrectomy: as per JSN/MHLW 2016 guidelines, perform unilateral or bilateral nephrectomy if native kidney enlargement seems sufficiently massive to jeopardize accommodation of the donor kidney.
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Nephrectomy (SWGIKD)
Kidney transplantation
Kidney transplantation (SWGIKD)
Specific circumstances
Pregnant patients: as per SWG-IKD 2014 guidelines, counsel patients that pregnancy is not recommended in patients with ADPKD with stage 3-5 CKD, excluding transplanted patients.
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Pediatric patients
Patients with cerebral aneurysm
Patients with polycystic liver disease