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Autosomal dominant polycystic kidney disease

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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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 Inherited Kidney Diseases (SWG-IKD 2014).
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Guidelines

1.Screening and diagnosis

Indications for screening: as per UKKA 2019 guidelines, decide on screening for ADPKD in asymptomatic children and young individuals at risk of developing ADPKD jointly between health professionals and parents or carers and, wherever possible, the young person.
B
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2.Diagnostic investigations

Diagnostic imaging: obtain CT in uncertain cases or in patients with suspicion of associated renal disease, such as stones or tumor.
B
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  • Genetic testing

  • Evaluation for cyst infection

  • Screening for polycystic liver disease

  • Screening for intracranial aneurysm

  • Screening for VHD

3.Medical management

General principles: 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

4.Nonpharmacologic interventions

Lifestyle modifications
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.
B
Advise patients with large polycystic kidneys to avoid contact sports and situations carrying a high risk of abdominal trauma.
B

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  • Water intake

  • Dietary protein restriction

5.Therapeutic procedures

Cyst aspiration
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.
C

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  • Transarterial embolization

  • Dialysis

6.Surgical interventions

Nephrectomy: as per JSN 2016 guidelines, perform unilateral or bilateral nephrectomy if native kidney enlargement seems sufficiently massive to jeopardize accommodation of the donor kidney.
B

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  • Nephrectomy (SWGIKD)

  • Kidney transplantation

  • Kidney transplantation (SWGIKD)

7.Specific circumstances

Pregnant patients: counsel patients that pregnancy is not recommended in patients with ADPKD with stage 3-5 CKD, excluding transplanted patients.
B
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  • Pediatric patients

  • Patients with cerebral aneurysm

  • Patients with polycystic liver disease

8.Patient education

General counseling: provide information on ADPKD inheritance and potential benefits and harms of testing for ADPKD in parents or carers of children at risk of developing ADPKD.
B

9.Preventative measures

Prevention of kidney stones
Insufficient evidence to recommend any prophylactic medical treatment for urolithiasis in patients with ADPKD.
I
Consider offering standard prophylactic treatment in patients with metabolic disorder.
C

10.Follow-up and surveillance

Blood pressure monitoring: obtain ambulatory or home BP monitoring for early diagnosis of hypertension.
B

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  • Follow-up