Table 4.

Kidney and extrarenal manifestations in ADPKD patients

PKD manifestation	Frequency	Comments
Kidney
Urinary concentration defect	In up to 60% of children	Earliest manifestation
Hypertension	In 50-70% prior to GFR decline; Average age of onset, 30	Screen children with family history of ADPKD from age 5, then at 3-y intervals if negative
ESRD	Occurs in 50% by age 60	Mean age of onset, 58 y
Proteinuria (>300 mg/d)	Associated with GFR decline	Prognostic marker
Abdominal/Flank Pain	In 60% of adults	Acute, chronic; multiple causes
Nephrolithiasis	In 20-35% of patients	Uric acid, Calcium oxalate composition
Cyst hemorrhage/gross hematuria	In up to 60% of patients	Most resolve within 2-7 d
Urinary tract infection	In 30-50% of patients	More common in women
Renal cell carcinoma	In <1% of patients	Risk not increased, may present with systemic symptoms
Extrarenal
Polycystic liver disease	In >80% by age 30	Include liver imaging in initial visit
Intracranial aneurysm	In 20-27% of those with positive family history of intracranial aneurysm; in 9% of those without such family history	Screen if family history of intracranial aneurysm, personal history of intracranial hemorrhage, individuals with high-risk professions, pre-transplantation
Arachnoid cysts	In 8-12%	Possible increased risk of spontaneous subdural hematoma
Mitral valve prolapse	In 25%	Screen if symptoms
Pericardial effusion	In up to 35%	Screen if symptoms
Pancreatic cysts	In 10%	No screening needed
Diverticulosis	In 20-25% of those with ESRD	No screening needed
Bronchiectasis	In up to 37%	Mild, no screening needed
Congenital hepatic fibrosis	rare	No screening needed
Seminal vesicle cysts	In up to 40% male patients	No correlation to semen abnormalities
Male infertility	associated with ADPKD	Abnormal semen parameters reported

GFR, glomerular filtration rate; ADPKD, autosomal dominant polycystic kidney disease; ESRD, end-stage renal disease