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Autosomal dominant polycystic kidney disease is an important cause of renal failure. It is inherited as an autosomal dominant trait with penetrance approaching 100% in those surviving until their seventh or eighth decade. The condition most usually presents in adult life but may develop at any time, including in utero.
Both kidneys are always affected. Cysts arise from the tubules throughout
the nephrons but initially, involve only a portion of them
The diagnosis of ADPKD is based on family history and ultrasonographic evaluation
In up to 25% of patients with ADPKD, no family history is identified, which
may be related to subclinical disease or a new genetic mutation in about 5%
Patients with ADPKD typically progress to end-stage renal disease (ESRD) by
the fifth or sixth decade of life. The rate of progression of ADPKD is related
directly to kidney volume.
- cysts may arise in other organs, particularly the liver; intracranial berry
aneurysms are found in up to 40% of patients, predisposing to subarachnoid
- ADPKD is the most common hereditary kidney disease in Western countries
- ADPKD is the fourth most common renal disease requiring renal replacement
- prevalence is between 2.4/10,000 and 3.9/10,000
- estimated that ADPKD affects 1 in every 400 to 1,000 live births
- mutations in two genes (PKD1 and PKD2) have been identified
- ADPKD is a multisystemic disease characterized by the progressive development
of bilateral renal cysts, resulting in enlargement of the kidney volume due
to cystic formations, hypertension, hematuria, and loss of renal function
- patients with PKD1 mutations typically have a more severe phenotype than
those with PKD2 mutations
- vasopressin and the associated cyclic adenosine monophosphate-related signaling
pathways have been demonstrated to be important contributors to cyst growth
- supportive treatments are recommended with the aim of reducing morbidity
and mortality associated with disease manifestations - therapies aim to slow
the decline in renal volume to delay progression.
- besides lifestyle changes (low-salt diet, sufficient fluid intake, and no
smoking), blood pressure control is the primary nonspecific treatment recommended
by Kidney Disease -Improving Global Outcomes (KDIGO) for ADPKD patients
- tolvaptan (vasopressin V2 receptor antagonist) has demonstrated a slower
decline than placebo in the eGFR over a one year period in patients with late-stage
chronic kidney disease but is associated with elevations of bilirubin and
alanine aminotransferase levels.
Last edited 12/2019 and last reviewed 12/2019