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Autosomal dominant polycystic kidney disease

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The Kidney Disease: Improving Global Outcomes Foundation (KDIGO) has published its first guideline on the evaluation and management of autosomal dominant polycystic kidney disease (ADPKD). For screening at-risk individuals, abdominal ultrasound is recommended to assess age-specific cyst numbers for diagnosis or exclusion, with follow-up MRI, CT, and/or genetic testing for diagnostic clarification if needed. The Mayo Imaging Classification is recommended for predicting kidney function deterioration. Tolvaptan is recommended to delay the progression of kidney disease. SGLT2 inhibitors should be avoided, as patients with ADPKD have been excluded from most trials, and thus the safety is unknown. A 4-6-week course of lipid-soluble antibiotics (fluoroquinolones, TMP/SMX) is recommended for cyst infection. Unilateral native nephrectomy, preferably with a hand-assisted laparoscopic approach, is suggested for eligible patients undergoing kidney transplantation, at the time of or after transplantation. .

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 Kidney Disease: Improving Global Outcomes Foundation (KDIGO 2025), 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 ...
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Screening and diagnosis

Indications for screening: as per KDIGO 2025 guidelines, obtain abdominal imaging by ultrasound for screening patients at risk of ADPKD, in the context of the family history, kidney function, and comorbidities.
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Classification and risk stratification

Nomenclature: as per KDIGO 2025 guidelines, use a common nomenclature that includes the disease name followed by the gene name in patients with ADPKD or autosomal dominant polycystic liver disease with a known genetic cause.
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  • Prognosis

Diagnostic investigations

Diagnostic imaging
As per KDIGO 2025 guidelines:
Consider obtaining follow-up MRI, CT imaging, and/or genetic testing to clarify the diagnosis and further characterize the disease.
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Consider using kidney imaging to make a diagnosis in patients with no known family history of ADPKD but with incidentally detected kidney cysts.
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  • Genetic testing

  • Screening for polycystic liver disease

  • Screening for intracranial aneurysm

  • Screening for other vascular abnormalities

  • Screening for CVDs

  • Evaluation for other kidney diseases

  • Evaluation for cyst infection

  • Monitoring for hypertension

Medical management

Tolvaptan: as per KDIGO 2025 guidelines, initiate tolvaptan in adult patients with ADPKD with an eGFR ≥ 25 mL/min/1.73 m² who are at risk for rapidly progressive disease.
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  • Other agents

  • Management of CKD

  • Management of hypertension

  • Management of chronic pain

  • Management of cyst bleeding

  • Management of cyst infection

  • Management of kidney stones

Nonpharmacologic interventions

Lifestyle modifications: as per KDIGO 2025 guidelines, encourage adult patients with ADPKD to undertake moderate-intensity physical activity for a cumulative duration of at least 150 minutes per week or to a level compatible with their cardiovascular and physical tolerance. Offer strength training for at least 1 hour, twice per week.
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  • Water intake

  • Dietary modifications

Therapeutic procedures

Cyst aspiration
As per JSN/MHLW 2016 guidelines:
Do not aspirate renal cysts to improve renal function in patients with ADPKD.
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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 KDIGO 2025 guidelines, decide on performing and timing of nephrectomy based on a pretransplant shared decision-making with patients and multidisciplinary case conferencing.
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  • Kidney transplantation

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 intracranial aneurysms

  • Patients with aortic aneurysm

  • Patients with polycystic liver disease

  • Patients with abdominal wall hernia

Patient education

General counseling: as per KDIGO 2025 guidelines, take into account patient values and preferences when discussing the diagnosis of ADPKD in patients and their families.
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Preventative measures

Prevention of kidney stones
As per JSN/MHLW 2016 guidelines:
Insufficient evidence to recommend any prophylactic medical treatment for urolithiasis in patients with ADPKD.
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Consider offering standard prophylactic treatment in patients with metabolic disorder.
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Follow-up and surveillance

Follow-up: as per SWG-IKD 2014 guidelines, schedule follow-up visits according to the CKD stage.
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