What is the recommended management for Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

Management of Autosomal Dominant Polycystic Kidney Disease (ADPKD)

The management of ADPKD should focus on blood pressure control with ACE inhibitors or ARBs as first-line therapy, monitoring for complications, and consideration of tolvaptan in selected patients to slow disease progression. 1

Diagnosis and Screening

• Ultrasonography is the radiological method of choice for screening at-risk individuals, with detection of one or more cysts being highly suggestive of ADPKD, though a negative scan cannot rule out the disease in childhood 2
• Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with progressive disease and negative family history 2
• For genetic testing in children with very-early-onset polycystic kidney disease, a multigene panel including cystic kidney disease genes with adequate coverage of PKD1 is suggested rather than testing single ADPKD genes 2

Blood Pressure Management

• Blood pressure monitoring should be performed yearly for all ADPKD patients, including at-risk children of affected parents who have deferred diagnostic testing 2
• Ambulatory blood pressure monitoring (ABPM) is more accurate than clinic measurements and should be used for high-risk children 2
• ACE inhibitors or ARBs are the first-line treatment for hypertension in ADPKD patients 1, 3
• Hypertensive ADPKD patients treated with ACE inhibitors have slower loss of renal function compared to those treated with diuretics, despite similar blood pressure control 3
• For patients aged 18-49 years with early CKD (G1-G2) and BP >130/85 mmHg, target blood pressure should be 110/75 mmHg measured by home monitoring 1
• For patients ≥50 years and/or with more advanced CKD (G3-G5), target systolic blood pressure should be <120 mmHg measured in office 1

Lifestyle Modifications

• Maintain normal weight as obesity is an independent predictor of faster renal function loss in adults with early ADPKD 2
• Low dietary salt intake is strongly recommended for all ADPKD patients, including children 2, 1
• Patients should be encouraged to drink to satisfy thirst, as dehydration should be avoided, but evidence does not support high water intake as a therapeutic intervention 2
• Unnecessary protein restriction should be avoided, especially in children, to reduce the risk of malnutrition 2
• Regular physical activity is recommended: at least 150 minutes per week of moderate-intensity activity plus strength training at least twice weekly 1
• Avoid tobacco products, limit alcohol consumption, and avoid excessive caffeine intake 1

Pharmacological Management

• Vasopressin antagonist tolvaptan is FDA-approved for slowing disease progression but should not be offered routinely to children 2, 1
• Important warnings for tolvaptan: can cause potentially fatal liver damage (requiring regular liver function monitoring), produces copious aquaresis with risk of dehydration, and is contraindicated in patients who cannot sense or respond to thirst 1
• No consensus exists on statin use in ADPKD, but mTOR inhibitors and somatostatin analogues are not recommended for children 2
• Avoid vasopressin analogues (used for nocturnal enuresis) in ADPKD patients as they may be detrimental 2

Management of Complications

Pain Management

• Pain management should follow a stepwise approach, starting with non-pharmacological interventions, then medications, and finally invasive procedures for refractory cases 1
• For pain attributable to dominant cysts, consider cyst aspiration or sclerotherapy 1
• Nefrectomy should be reserved for intractable severe pain, typically in advanced renal disease 1

Urinary Tract Infections

• Do not treat asymptomatic bacteriuria 1
• For symptomatic UTIs, obtain urine culture before starting antibiotics and use first-line therapy (nitrofurantoin, trimethoprim-sulfamethoxazole, fosfomicina) 1
• For kidney cyst infections, use lipid-soluble antibiotics (e.g., trimethoprim-sulfamethoxazole, fluoroquinolones) for 4-6 weeks 2
• Recurrent UTIs should be investigated for underlying predisposition 2, 1

Kidney Stones and Hematuria

• Medical management of kidney stones in ADPKD should be the same as in the general population 1
• Obstructive stones should be managed in specialized centers 1
• Healthcare providers should discuss the possibility, causes, and natural history of macroscopic hematuria with patients at diagnosis 1

Monitoring Disease Progression

• Total kidney volume assessment is important for predicting disease progression 1
• The Mayo Imaging Classification (MIC) stratifies patients according to height-adjusted and age-adjusted total kidney volume (classes 1A to 1E) 1
• Regular monitoring of kidney function, blood pressure, and associated complications is essential 1

Special Considerations

Pregnancy

• Women with ADPKD who are pregnant should be followed by a multidisciplinary team 1
• Blood pressure target during pregnancy: ≤130/85 mmHg 1
• ACE inhibitors, ARBs, tolvaptan, and other teratogenic drugs should be discontinued before pregnancy 1

Kidney Replacement Therapy

• Kidney transplantation, preferably preemptive living-donor transplantation, is the preferred treatment for end-stage kidney disease in ADPKD 2
• Native nephrectomy should only be performed for specific indications when benefits outweigh risks 2

Screening for Associated Conditions

• Consider screening for intracranial aneurysms in patients with family history of aneurysms or subarachnoid hemorrhage 1
• Consider echocardiography in patients with severe or uncontrolled hypertension, heart murmur, or family history of thoracic aortic aneurysm 1