What is the recommended management for patients with polycystic kidney disease (PKD)?

Management of Polycystic Kidney Disease

All patients with polycystic kidney disease should receive comprehensive lifestyle interventions including blood pressure control with renin-angiotensin system inhibitors, low-salt diet, high water intake, regular physical activity, weight management, smoking cessation, and psychosocial support, with tolvaptan reserved for high-risk patients with rapid disease progression. 1, 2

Blood Pressure Management

Strict blood pressure control is the cornerstone of ADPKD management to slow disease progression and reduce cardiovascular morbidity and mortality. 2

• For patients 18-49 years with CKD stages G1-G2 and BP >130/85 mmHg: Target 110/75 mmHg measured by home monitoring 2
• For patients ≥50 years and/or CKD stages G3-G5: Target systolic BP <120 mmHg measured in office 2
• ACE inhibitors or ARBs are first-line antihypertensive agents for all ADPKD patients with hypertension 2
• Never combine ACE inhibitors, ARBs, and direct renin inhibitors due to increased risk of adverse events 2
• Resistant hypertension requiring ≥3 medications warrants investigation for medication non-adherence or secondary causes 2

Lifestyle Modifications

Lifestyle interventions should be emphasized early, particularly during adolescence and young adulthood, as this represents a critical window to establish healthy habits before disease progression. 1

Dietary Recommendations

• Low-salt diet: Achieve recommended daily sodium intake limits 1
• High water intake: May slow progression of renal failure, though evidence is weak 1
• Avoid excessive protein intake: May be beneficial in slowing disease progression 1
• Limit alcohol consumption to ≤1 drink/day for women, ≤2 drinks/day for men 2
• Avoid excessive caffeine intake 2

Physical Activity

• Moderate-intensity physical activity for at least 150 minutes per week 1, 2
• Strength training at least 2 sessions per week 2
• Maintain normal body weight and avoid obesity 1

Tobacco and Nephrotoxins

• Complete abstinence from smoking 1, 2
• Avoid nephrotoxic medications, particularly chronic or high-dose NSAIDs 1

Disease-Modifying Pharmacotherapy

Tolvaptan (Vasopressin Antagonist)

Do not routinely offer vasopressin antagonists to children and young people with ADPKD. 1

• Off-label use can be considered at clinician discretion in high-risk patients with large total kidney volume, rapid kidney growth, or concerning family history 1
• Critical warnings: Can cause severe and potentially fatal hepatic injury requiring regular liver function monitoring; produces copious aquaresis with risk of dehydration and hypovolemia; contraindicated in patients unable to perceive or respond to thirst 2
• Causes substantial polyuria affecting sleep and daily activities, requiring extensive counseling and support for adherence 1

Medications NOT Recommended

• mTOR inhibitors should NOT be used in children and adolescents with classical ADPKD due to lack of eGFR benefit and significant adverse effects including proteinuria, hyperlipidemia, and cytopenias 1
• Somatostatin analogues should NOT be used in children with ADPKD due to insufficient evidence and lack of sustained renal benefit 1
• Use vasopressin analogues (e.g., desmopressin) with caution in children with ADPKD and enuresis due to potential negative effects on cyst growth 1

Management of Complications

Pain Management

Pain management requires a stepwise algorithmic approach prioritizing non-invasive strategies first. 2

1. First-line: Non-pharmacological and non-invasive interventions 2
2. Second-line: Pharmacological treatment if no relief, avoiding chronic NSAID use 1, 2
3. Third-line: For pain attributable to dominant cysts, consider cyst aspiration or aspiration sclerotherapy 2
4. Fourth-line: For refractory chronic visceral pain, consider celiac plexus block or percutaneous renal denervation 2
5. Last resort: Nephrectomy reserved for severe intractable pain, typically in advanced kidney disease 2

Urinary Tract Infections

• Do NOT treat asymptomatic bacteriuria 2
• Obtain urine culture before initiating antibiotics 2
• Use first-line therapy (nitrofurantoin, trimethoprim-sulfamethoxazole, fosfomicin) for uncomplicated symptomatic UTIs 2
• Treat acute cystitis with shortest reasonable antibiotic duration (generally no more than 7 days) 2
• Investigate recurrent UTIs for underlying predisposition 2

Nephrolithiasis and Hematuria

• Treat kidney stones in ADPKD patients identically to the general population 2
• Obstructive kidney stones require management at specialized centers 2
• Discuss the possibility, causes, and natural history of macroscopic hematuria with patients at diagnosis 2

Psychosocial Support and Family Counseling

Integrated care must address the substantial psychological burden of genetic guilt and anxiety about future disease progression that affects both patients and families. 1

Family Communication

• Encourage families to openly discuss disease and genetic risks with children using age-appropriate information 1
• Provide professional assistance for managing emotional reactions, as avoiding discussions creates family tensions through misunderstanding, blame, and secrecy 1
• Multi-family discussion groups can promote effective intrafamilial communication 1

Positive Messaging for Adolescents and Young Adults

• Convey empowering messages: "You are not ill," "You have the opportunity and time to influence later outcome by preventive measures," "Many career choices are open to you" 1
• Actively inquire about anxieties and sources of psychological support 1
• Encourage contact with affected peers via patient communities 1
• Discuss wise disclosure of renal disease to outsiders 1

Transition of Care

Ensure smooth transition from pediatric to adult nephrology care following best-practice guidelines, as discontinuity is an important risk factor for adverse outcomes. 1

Special Populations

Women of Reproductive Age

Young women should avoid high-estrogen-containing contraceptive products due to potential exacerbation of liver disease. 1

• Women without liver cysts or with mild polycystic liver disease (PLD) can use combined low-estrogen and/or progestin contraceptives with no restriction on progesterone-containing methods 3
• Women with moderately severe PLD can likely use progestin-only IUDs, which have low systemic exposure 3
• Women with severe PLD should use non-hormonal methods (barrier methods, copper IUDs) and avoid progesterone-containing methods 3
• Before prescribing progesterone therapy: Obtain liver imaging to assess hepatic cysts, educate about contraceptive choices, and select method based on PLD severity 3

Pregnancy Management

• Pregnant women with ADPKD require multidisciplinary team follow-up 2
• Target BP during pregnancy: ≤130/85 mmHg 2
• Discontinue all teratogenic drugs before pregnancy: ACE inhibitors, ARBs, tolvaptan, and other teratogenic medications 3, 2
• Low-dose aspirin from week 12 to 36 to prevent preeclampsia 2

Screening for Extrarenal Manifestations

• Intracranial aneurysms: Consider screening only in patients with family history of aneurysms or subarachnoid hemorrhage, or high-risk professions; routine screening not justified in childhood 1, 2
• Liver cysts: No routine screening recommended in children with confirmed ADPKD; ultrasonography reasonable at first presentation if considering alternative diagnoses 1
• Cardiac evaluation: Consider echocardiography in patients with severe or uncontrolled hypertension, cardiac murmur, or family history of thoracic aortic aneurysm 2

Specialized Care and Monitoring

Newborns and infants with severe cystic disease require referral to specialized centers for extended genetic testing and multidisciplinary care. 1

• Children with TSC2/PKD1 contiguous gene syndrome typically have severe disease and may reach ESRD in young adulthood, requiring specialized multidisciplinary care 1
• Total kidney volume assessment is important for predicting disease progression 2
• Mayo Imaging Classification (MIC) stratifies patients by height-adjusted kidney volume and age (classes 1A to 1E) to guide prognosis 2