Polycystic Kidney Disease

Steve Sammons, MD

Clinical Director of the U of U PKD Clinic

5/14/2026

Objectives

• Understand the clinical features and diagnosis of Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• Understand how to approach prognostication for patients with ADPKD
• Understand available treatments and strategies for managing the renal and extrarenal manifestations of ADPKD, along with the limitations of these treatments
• Feel comfortable knowing when to refer a patient with known or suspected ADPKD to Nephrology care

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Outline

• Pathophysiology
• Epidemiology
• Diagnosis
• Prognostication
• Management
• Renal Specific Complications (i.e. cyst complications & stones)
• Extrarenal Complications (i.e. aneurysms)
• U of U PKD Clinic

Pathophysiology

PCN1 &

PCN2

Ferreira FM, Watanabe EH, Onuchic LF. Polycystins and Molecular Basis of Autosomal Dominant Polycystic Kidney Disease. In: Li X, editor. Polycystic Kidney Disease [Internet]. Brisbane (AU): Codon Publications; 2015 Nov. Chapter 7. Available from: https://www.ncbi.nlm.nih.gov/books/NBK373394/ doi: 10.15586/codon.pkd.2015.ch7

Pathophysiology

Reiterová J, Tesař V. Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment. Int J Mol Sci. 2022 Mar 19;23(6):3317. doi: 10.3390/ijms23063317. PMID: 35328738; PMCID: PMC8949594.

~80%

~15%

~5%

Borghol AH, Bou Antoun MT, Hanna C, Salih M, Rahbari-Oskoui FF, Chebib FT. Autosomal dominant polycystic kidney disease: an overview of recent genetic and clinical advances. Ren Fail. 2025;47(1):2492374. doi:10.1080/0886022X.2025.2492374

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Epidemiology

• ADPKD is the most prevalent monogenic kidney disease associated with kidney failure
• There is no major racial, ethnic, or geographic variation in ADPKD prevalence*
• ADPKD represents ~5% of the Kidney Replacement Therapy (KRT) population in both the US and Europe
• ADPKD is the 4^th leading cause of ESKD after DM, HTN, & GN

Epidemiology

• How common is ADPKD?
• Estimates vary based on study population and methodology:
• 1 in 1,000 – older estimate from 1950s, Copenhagen Study
• 2-7 in 10,000 – population based studies in US and Europe looking at “definite” or “likely” cases
• 9.3 in 10,000 – prevalence of high confidence pathogenic variants in large genome database
• Somewhere between 0.5-1.0 per 1000 people is a safe estimate

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Dalgaard O.Z. Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families(1957) Acta medica Scandinavica. Supplementum, 328, pp. 1 - 255

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Diagnosis – Positive Family History

• Initial screening test is a renal ultrasound
• Benign cysts increase with age, so cyst number criteria change with age
• Family member genetic testing is not required but does improve sensitivity and specificity

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Diagnosis – Positive Family History

• Examples:

35 y/o man with a known family history of ADPKD- PKD1 and no known personal medical history has a renal U/S performed showing 7 total cysts (3 in right kidney, 4 in left kidney)

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46 y/o woman with a known family history of ADPKD (unknown genetic testing) has a renal U/S performed showing a single cyst in her right kidney

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Diagnosis – Positive Family History

• If ultrasound imaging is equivocal, options include MRI (better cyst resolution), genetic testing, or serial imaging (q5y)

Diagnosis – Negative/unknown Family History

• De Novo mutations causing ADPKD appear in ~20% of cases
• ADPKD may be undiagnosed in family members
• Imaging remains the primary tool of diagnosis, but genetic testing can be very helpful
• In patients with an unclear diagnosis (limited # of cysts) who decline genetic testing, reimage every 5 years

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Diagnosis – Genetic Testing

• In patients with typical presentations, especially with positive family history, genetic testing isn’t necessary to diagnose ADPKD

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Prognosis

• Median age of ESKD onset:
• PKD1 pathogenic variants - 54-58 years
• PKD2 pathogenic variants – 74-79 years
• Among patients with PKD1 pathogenic variants, truncating variants are associated with more severe disease (median age of ESKD ~55 vs ~65)

Prognosis – Minor alleles

Early ESKD (childhood)

Low risk of ESKD

Moderate risk of ESKD

Moderate risk of ESKD

Moderate risk of ESKD

Low risk of ESKD

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Natural History of ADPKD – CRISP

• Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) study (2006):
• 241 patients with ADPKD aged 15-46
• Baseline eGFR >70 ml/min
• Excluded those with certain comorbidities (e.g. DM), included those with HTN as this is expected in ADPKD
• Annual MRI to assess TKV & cyst volume, plus GFR estimated by iothalamate clearance

Grantham, J. J. et al (2006). Volume progression in polycystic kidney disease. New England Journal of Medicine, 354(20), 2122–2130. https://doi.org/10.1056/nejmoa054341

Natural History of ADPKD – CRISP

• Mean annual increase in TKV of 63 ml/year (5.3%/year)
• TKV increase directly correlated with cyst volume increase
• TKV increase correlated with eGFR decline
• Rate of eGFR decline was dependent on baseline TKV (large kidneys -> faster eGFR decline)

Grantham, J. J. et al (2006). Volume progression in polycystic kidney disease. New England Journal of Medicine, 354(20), 2122–2130. https://doi.org/10.1056/nejmoa054341

Natural History of ADPKD – CRISP

• Growth in Total Kidney Volume appears to come from enlargement of existing cysts rather than production of new cysts
• Cyst enlargement is continuous and appears to proceed at a steady rate specific to each patient
• Larger kidneys at given age predicts faster growth in Total Kidney Volume and faster decline in eGFR
• In those with genetic testing (185/241 subjects), PKD1 variants were associated with larger baseline TKV, more rapid growth, and faster decline in eGFR

Grantham, J. J. et al (2006). Volume progression in polycystic kidney disease. New England Journal of Medicine, 354(20), 2122–2130. https://doi.org/10.1056/nejmoa054341

Mayo Imaging Classification (MIC)

Irazabal MV, Rangel LJ, Bergstralh EJ, et al. Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. J Am Soc Nephrol. 2015;26(1):160-172. doi:10.1681/ASN.2013101138

Mayo Imaging Classification (MIC)

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

PRO-PKD Score

• Alternative risk stratification system using a combination of genetic results and clinical features
• Developed in 2016 using a 1341 person ADPKD cohort

https://adpkdsim.org/expert/prognostic-tools/propkd-score

Cornec-Le Gall et al. The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease. Journal of the American Society of Nephrology 27(3):p 942-951, March 2016. | DOI: 10.1681/ASN.2015010016 - Figure 2

PRO-PKD Score vs MIC

• MIC requires imaging
• PRO-PKD requires genetic testing
• PRO-PKD limiting in those <35 y/o w/o HTN or urologic event hx
• PRO-PKD tends to underestimate risk in certain patients
• Ideally, use of both is helpful especially when considering intermediate risk groups (e.g. MIC 1C)

Allmer DM, Parada Rodriguez D, Aigner C, et al. Progression to kidney failure in ADPKD: the PROPKD score underestimates the risk assessed by the Mayo imaging classification. Front Med (Lausanne). 2024;11:1470309. Published 2024 Nov 7. doi:10.3389/fmed.2024.1470309

Notes on imaging

• Preferred modalities: MRI > CT > US
• Total Kidney Volume can be measured by ellipsoid equation (π/6xLxWxD) or by Stereology (better accounts for variations in shape)
• There is excellent correlation between TKV measured both ways using both CRISP and MAYO data sets

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Irazabal MV, Rangel LJ, Bergstralh EJ, et al. Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. J Am Soc Nephrol. 2015;26(1):160-172. doi:10.1681/ASN.2013101138

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Management – Blood Pressure

• HALT-PKD Trial (2014)
• 2 x 2 trial,* randomized subjects to:
• Standard (120-130/70-80) vs Rigorous blood pressure (95-110/60-75)
• Lisinopril plus Telmisartan vs Lisinopril plus placebo
• Included subjects age 15 – 49, eGFR >60 ml/min, 423 participants
• Patients need to have HTN or “high normal” blood pressure, excluded patients with diabetes, RAS, UACR > 0.5 g/g

Schrier, Robert W., et al. “Blood Pressure in Early Autosomal Dominant Polycystic Kidney Disease.” New England Journal of Medicine, vol. 371, no. 24, 11 Dec. 2014, pp. 2255–2266, https://doi.org/10.1056/nejmoa1402685.

Management – Blood Pressure

• Compared to Standard BP, Rigorous BP control was associated with:
• Slower annual TKV increase (5.6% vs 6.6%, P=0.006)
• Greater reduction in LV mass index (-1.17 vs -0.57, P <0.001)
• Decreased albuminuria (-3.77%/year vs -2.42%, P<0.001)
• However, no significant difference in eGFR decline (-2.9 vs -3.0, P=0.55)
• Incidence of “dizziness” and “lightheadedness” were great with rigorous control, but no difference in death, major cardiac or renal events, AKI, hyperkalemia

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Schrier, Robert W., et al. “Blood Pressure in Early Autosomal Dominant Polycystic Kidney Disease.” New England Journal of Medicine, vol. 371, no. 24, 11 Dec. 2014, pp. 2255–2266, https://doi.org/10.1056/nejmoa1402685.

Management – Blood Pressure

• Compared to ACEi alone, ACEi plus ARB did not show differences in the TKV, eGFR, albuminuria
• Hyperkalemia was more common with ACEi plus ARB, but no difference in hospitalization or serious adverse events

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Schrier, Robert W., et al. “Blood Pressure in Early Autosomal Dominant Polycystic Kidney Disease.” New England Journal of Medicine, vol. 371, no. 24, 11 Dec. 2014, pp. 2255–2266, https://doi.org/10.1056/nejmoa1402685.

Management – Blood Pressure – The guidelines

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Management – Disease Modification

Reiterová J, Tesař V. Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment. Int J Mol Sci. 2022 Mar 19;23(6):3317. doi: 10.3390/ijms23063317. PMID: 35328738; PMCID: PMC8949594.

Management – Tolvaptan

• Two major trials have demonstrated Tolvaptan’s efficacy in treatment of ADPKD
• TEMPO 3:4 (2012) - 18 – 50 y/o, eGFR >60
• multicenter, double blinded, placebo-controlled RCT. n = 1445. 3 yr f/u
• Tolvaptan slowed annual progression of TKV (2.8% v 5.5%)
• Tolvaptan slowed decline in kidney function
• REPRISE (2017) - 18 – 65 y/o, eGFR 25 - 65
• Multicenter, double blinded, placebo-controlled RCT. n = 1370. 1 yr f/u
• Tolvaptan slowed decline in eGFR (1.27 ml/min over 1 year)

Torres, Vicente E., et al. “Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease.” New England Journal of Medicine, vol. 367, no. 25, 20 Dec. 2012, pp. 2407–2418, www.ncbi.nlm.nih.gov/pmc/articles/PMC3760207/, https://doi.org/10.1056/nejmoa1205511.

Torres, Vicente E., et al. “Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease.” The New England Journal of Medicine, vol. 377, no. 20, 16 Nov. 2017, pp. 1930–1942, pubmed.ncbi.nlm.nih.gov/29105594/, https://doi.org/10.1056/NEJMoa1710030.

Management – Tolvaptan

Management – Tolvaptan

Management – Tolvaptan

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Management – Tolvaptan

• Drug Induced Liver Injury (DILI) occurs in 4-5% of patients treated with tolvaptan
• Most cases of DILI occurred in the first 18 months
• DILI typically resolves without complication in 1-3 months
• Recurrence is common, so rechallenge should be done with caution
• One case of Liver Failure resulting in Liver Transplant has been reported:

Management – Tolvaptan

Tolvaptan Drug Monitoring

1) Obtain CMP prior to initiating tolvaptan, then at week 2 & 4 of therapy

2) Obtain CMP Monthly for 18 months

3) Obtain CMP every 3 months thereafter

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Management – Tolvaptan

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Management – Tolvaptan

• Tolvaptan use can be associated with hypernatremia and hyperuricemia
• Tolvaptan should be paused in any situation expected to cause volume depletion (e.g. pause if having vomiting, diarrhea, fever, or when activities preclude safe access to water)

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Reiterová J, Tesař V. Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment. Int J Mol Sci. 2022 Mar 19;23(6):3317. doi: 10.3390/ijms23063317. PMID: 35328738; PMCID: PMC8949594.

Management – Fluid Intake

• PREVENT PKD: 13 centers throughout Australia
• Inclusion criteria:
• Adults aged 18-67 y/o with ADPKD
• eGFR >30 mL/min
• Mayo class 1B-1E (mod-high risk)
• Exclusion criteria:
• Safety risk of increased water intake*
• Unable to do MRI for TKV classification
• Comorbidities likely to confound endpoints (e.g advanced DM, GN, solitary kidney)

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Mayo Classification

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* Baseline serum Na <135

HF, cirrhosis, nephrotic syndrome

On medications likely to induce

hyponatremia

Rangan, Gopala K., et al. “Prescribed Water Intake in Autosomal Dominant Polycystic Kidney Disease.” NEJM Evidence, vol. 1, no. 1, 9 Jan. 2022, https://doi.org/10.1056/evidoa2100021.

Management – Fluid Intake

• Group A (Control)
• Advised to maintain fluid intake per their nephrologist (i.e. usual practice)
• Group B (Intervention)
• Prescribed fluid intake in order to reduce urine osmolality ≤270 mOsm/kg
• Two 24 hr urine measurements obtained at baseline

Rangan, Gopala K., et al. “Prescribed Water Intake in Autosomal Dominant Polycystic Kidney Disease.” NEJM Evidence, vol. 1, no. 1, 9 Jan. 2022, https://doi.org/10.1056/evidoa2100021.

Management – Fluid Intake

• Annual change in htTKV (1* end point) was not significantly different between two groups
• Change in eGFR (2* end point) was not significantly different over course of trial
• No difference in other 2* end points (mean resting MAP, UACR, kidney pain scale)

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Rangan, Gopala K., et al. “Prescribed Water Intake in Autosomal Dominant Polycystic Kidney Disease.” NEJM Evidence, vol. 1, no. 1, 9 Jan. 2022, https://doi.org/10.1056/evidoa2100021.

Management – Fluid Intake

“Taken together, these data suggest that prescribing water intake, while associated with about a 10% incidence of resolvable hyponatremia, is difficult to maintain over the long term and insufficient for suppressing arginine vasopressin and kidney cyst growth in most patients with ADPKD”

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Past & Future Directions – Disease modifying agents

• mTORi – Multiple RCTs have studied mTORi use in ADPKD. Largely showed no improvement in TKV but some studies showed mTORi use was associated with faster eGFR decline and more infections
• Statins – Two small RCTs, one in adults with no difference in outcomes (open label, lots of loss to f/u), one in children with a significant improvement in htTKV in treatment group
• Somatostatin Analogues – Several trials showing improved TKV but no change in eGFR, and are associated with adverse effects
• Metformin – One small RCT with positive results (significantly better TKV at 12 months) but no change in eGFR. A large, multicenter RCT called IMPEDE-PKD is currently recruiting

Past & Future Directions – Disease modifying agents

• Ketogenic Interventions:
• Cells with PKD mutations are metabolically dependent on glucose as an energy source
• Inducing a state of ketosis appears to attenuate cyst growth in pre-clinical models

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Sadrija Cukoski et al., Feasibility and impact of ketogenic dietary interventions in polycystic kidney disease: KETO-ADPKD—a randomized controlled trial,

Cell Reports Medicine, Volume 4, Issue 11, 2023,101283, ISSN 2666-3791, https://doi.org/10.1016/j.xcrm.2023.101283.

Past & Future Directions – Disease modifying agents

• A family of MicroRNAs called miR-17 has been shown to be upregulated in ADPKD, and inhibition of miR-17 attenuates cyst growth in mouse models
• Farabursen is a novel anti-miR-17 oligonucleotide that has promising early clinical trial data in ADPKD

Lee EC, Valencia T, Allerson C, et al. Discovery and preclinical evaluation of anti-miR-17 oligonucleotide RGLS4326 for the treatment of polycystic kidney disease. Nat Commun. 2019;10(1):4148. Published 2019 Sep 12. doi:10.1038/s41467-019-11918-y

Management – General CKD Considerations

• SGLT2i induce an osmotic diuresis, which is expected to increase vasopressin and could exacerbate cyst growth in ADPKD
• ADPKD patients were excluded form major SGLT2i trials in CKD
• Pilot RCT underway at the University of Colorado to evaluate safety and tolerability of empagliflozin in ADPKD:

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Management – General CKD Considerations

• Cyst growth is accompanied by regional hypoxia and HIF-1a induction, and Hypoxia-Inducible Factor-prolyl Hydroxylase Inhibitors (HIF-PHIs) theoretically can promote cyst growth
• Mouse models show HIF-PHI use associated with acceleration of cyst growth and worsening renal function. Human data is limited

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Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Management – Diet and Lifestyle

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Renal Specific Complications - Cyst Hemorrhage

• Typically associated with sudden onset flank pain
• May be associated with hematuria if cyst communicates with collecting system
• Most cyst hemorrhages symptomatically resolve within 2-7 days
• Intervention is rarely needed, except in cases of severe hemorrhage, extension into RP space, or urinary obstruction from clotting

Renal Specific Complications - Cyst Hemorrhage

• Hematuria persisting longer than 7 days, or an initial episode of hematuria in a patient older than 50, are indications for imaging to exclude malignancy
• While there is no clear association between ADPKD and RCC, the presentation of RCC in patients with ADPKD can be atypical, with features such as fever, fatigue, weight loss being more common

Renal Specific Complications - Cyst Infection

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Renal Specific Complications - Cyst Infection

• Treatment of Cyst Infections involves 4-6 weeks of antibiotic therapy with Fluoroquinolone or TMP-SMX therapy

Renal Specific Complications - Nephrolithiasis

• People with ADPKD are at higher risk of kidney stones than unaffected family member (RR 1.8, CI 1.3-2.6)
• Uric acid stones are more common in ADPKD patients than the general population, but Calcium oxalate stones remain the most common
• No consensus about screening for kidney stones in ADPKD
• 24 hr urine testing for lithogenic risk factors should be considered in ADPKD patients with known stones, and medical treatment of recurrent stones should be the same as in the general population

Renal Specific Complications – Kidney Pain

• May be acute or chronic (>3 months)
• Acute pain typically related to cyst expansion, rupture, but should consider cyst infection, nephrolithiasis, and all other causes of abdominal pain

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Renal Specific Complications – Kidney Pain

• Chronic Kidney Pain in ADPKD is common and can be a major burden on patients
• Degree of pain does not always correlate with TKV, especially early in disease
• Mechanisms of pain include renal capsule distention or traction or renal pedicle, as well as nociceptive stimulation following renal cyst infection/hemorrhage

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Renal Specific Complications – Kidney Pain

• Noninvasive or minimally invasive interventions are preferred first
• Progressively more invasive interventions can be considering in patients with refractory pain
• Patient should be offered discussions with multidisciplinary team, including Nephrology, Urology, Interventional Radiology

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Extrarenal Complications – ICA & SAH

Devuyst O, Ahn C, Barten T ... KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Kidney International, 107, S1-S239

Extrarenal Complications – ICA & SAH

• Screening should only be done if patients have a reasonable life expectancy and would be eligible for treatment if indicated based on screening findings
• Indications for Intracranial Aneurysm (ICA) Screening:
• Personal history of Subarachnoid Hemorrhage (SAH)
• Family history of ICA, SAH, or unexplained sudden death
• As part of evaluation prior to transplantation, major elective surgery, or pregnancy planning
• If required for occupation (e.g. airline pilot, bus driver)
• If patients desire screening after comprehensive discussion, even if not otherwise high risk

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Extrarenal Complications – ICA & SAH

• Options for ICA screening include:
• MR Angiography without contrast (uses “time of flight” method, no contrast needed)
• CT Angiography with contrast
• If screening negative, limited evidence for rescreening intervals (suggested interval is 5-10 years)

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U of U PKD Clinic

• ADPKD is a unique disease within Nephrology that requires specialized and multidisciplinary care
• In additional to clinical care, ADPKD patients should be given opportunities to participate in clinic trials and local registries
• Historical pessimism about the lack of disease-modifying therapies in ADPKD should be replaced with optimism for existing evidence-based therapies and the promise of future therapies

U of U PKD Clinic – When to refer?

• Any PKD patient is appropriate to establish with the clinic, as even stable patients with mild disease may benefit from access to a disease-specific registry, clinical trials, and family planning resources
• Patients who are at high risk of rapidly progressive disease and may qualify for Tolvaptan therapy
• Patients with negative or difficult to interpret genetic testing, atypical imaging, or PKD with comorbid kidney disease (e.g. diabetes and PKD)

Thank You!

Further Resources:

U of U PKD clinic website: https://healthcare.utah.edu/kidney-nephrology/polycystic-kidney-disease

KDIGO ADPKD 2025 Guidelines: https://kdigo.org/guidelines/autosomal-dominant-polycystic-kidney-disease-adpkd/

PKD Free alliance: https://www.pkdfree.org/

PKD Foundation: https://pkdcure.org/

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