The packet's definition identifies the condition as the autosomal dominant form of polycystic kidney disease. The packet's gene list and inheritance field are empty, so no specific genes or inheritance details are certified in the packet fields. GeneReviews describes penetrance in ADPKD as age and genotype dependent: the penetrance of multiple bilateral kidney cysts in older adults is close to 100%, whereas few cysts may be evident during childhood or young adulthood because the disease is progressive. The packet lists several disease subtypes, including numbered types such as polycystic kidney disease 1, 2, 3, 6, 7, and 8, some described as with or without polycystic liver disease.

GeneReviews states that diagnostic criteria for ADPKD are discussed in the executive summary of the KDIGO Controversies Conference. The diagnosis is described as established in a proband by imaging findings together with an affected first-degree relative, or by molecular genetic testing, so genetic confirmation is one of several routes described. Age-specific ultrasound criteria in an individual with an affected first-degree relative are three or more unilateral or bilateral kidney cysts at ages 15 to 39 years, two or more cysts in each kidney at ages 40 to 59 years, and large echogenic kidneys without distinct macroscopic cysts in an infant or child at 50% risk. GeneReviews reports a positive predictive value of 100% for these criteria under stated genotype conditions at ages 15 to 59 years, and notes that sensitivity is decreased in some genotype groups, so a significant number of affected individuals may not be diagnosed using these criteria in those situations. For equivocal ultrasound results, age-specific MRI criteria are described, with more than ten cysts sufficient for a diagnosis in individuals ages 16 to 40 years at 50% risk. GeneReviews also notes that absence of a known family history does not preclude the diagnosis. Its differential diagnosis section describes benign simple cysts and other genetic and acquired cystic conditions.

Per the packet's approved treatment records, tolvaptan is listed under two FDA-approved brand products with active market status: JYNARQUE (NDA, CDER, approved 2018-04-23) and SAMSCA (NDA, CDER, approved 2009-05-19). The packet's orphan drug records list JYNARQUE with an approved status and an indication of treatment of autosomal dominant polycystic kidney disease; the packet does not state an indication for SAMSCA. GeneReviews states that current therapy for ADPKD is aimed at slowing the progression of declining kidney function and reducing morbidity and mortality from kidney and extra-kidney complications. It reports that studies have shown the vasopressin V2 receptor antagonist tolvaptan can slow the increase in kidney volume, delay decline in kidney function, and preserve estimated glomerular filtration rate, that it causes elevations in liver enzyme levels in approximately 5% of individuals which reversed on withdrawal, and that it has been approved for clinical use in persons with ADPKD in many parts of the world, including Japan, Canada, Europe, and the US. For hypertension, GeneReviews states that the antihypertensive agent of choice in ADPKD has not been clearly established, and that ACE inhibitors and angiotensin II receptor blockers may be superior to other agents in individuals with preserved kidney function. The packet also lists many additional orphan drug designations for ADPKD, two of them withdrawn. Orphan designation does not establish approval, development status, or efficacy. Under investigation, GeneReviews describes somatostatin analogs, including a three-year randomized trial of octreotide long-acting release in 75 affected individuals in Italy, in which the organ size difference favoring the treated group was no longer statistically significant after three years.

GeneReviews describes substantial variability in the severity of kidney disease. It lists poor prognostic factors as diagnosis before age 30 years, first episode of hematuria before age 30 years, onset of hypertension before age 35 years, hyperlipidemia and high body mass index, high urine sodium excretion, lower kidney blood flow, lower serum high-density lipoprotein cholesterol, large total kidney volume, and the presence of a truncating variant. GeneReviews states that the lower incidence of end-stage kidney disease (ESKD) in affected females than males suggests that ADPKD is more severe in males. Height-adjusted total kidney volume is described as a strong predictor of subsequent decline in kidney function and age at ESKD. In prenatally detected enlarged kidneys, GeneReviews states the prognosis is often more favorable than expected given the kidney size, with ESKD developing earlier than is typically seen in adult-onset disease.

ClinicalTrials.gov records in this packet show an active research area for ADPKD, with a mixed sponsor profile and intervention types including drug therapy, medical devices, procedural interventions, and other interventions. Listed records include NCT07282821, Bempedoic Acid Therapy for Polycystic Kidney Disease, a recruiting phase 2 study sponsored by Kenneth Hallows; NCT07228364, a recruiting phase 1 study of AZD1613 sponsored by AstraZeneca; NCT06902558, the ANCHOR phase 2 study of ABBV-CLS-628 sponsored by Calico Life Sciences LLC and listed as recruiting; NCT07161037, a phase 2a study of VX-407 sponsored by Vertex Pharmaceuticals Incorporated and listed as active, not recruiting; and NCT07745920, a Mayo Clinic study titled Managing Depressive Symptoms in ADPKD. Trial titles do not establish the effect of any intervention. The packet's research landscape digest classifies the publication literature as predominantly basic science and preclinical, with gene therapy and biomarker publications present. Active clinical trials for this condition are listed on ClinicalTrials.gov.