What is ADPKD?
Autosomal dominant polycystic kidney disease (ADPKD)
is a progressive and inherited kidney disease1
ADPKD is a genetic disease characterized primarily by the development and progressive enlargement of fluid-filled renal cysts.1,2
Over time, the enlarging cysts cause an increase in total kidney volume (TKV) up to 4 times that of the normal kidney. This contributes to compression and loss of the surrounding functional renal tissue, resulting in a progressive decline of renal function, typically leading to end-stage renal disease (ESRD).1,3-5
Watch as fluid-filled cysts develop and enlarge in ADPKD.
Mutations in the PKD gene cause ADPKD2,3
OF ALL ADPKD CASES
are due to mutations in PKD12,3*
- Cysts may appear when patients are young adults and the disease can progress rapidly6
- The median age of ESRD onset is roughly 54 years in patients with PKD1 mutation2
OF ALL ADPKD CASES
are due to mutations in PKD2 2,3†
- The disease progresses more slowly6
- The median age of ESRD onset is roughly 74 years with PKD2 mutation2
*PKD1=gene that encodes polycystin 1 (PC1), a transmembrane protein located on the cilia and epithelial cells of the renal tubules.2,7
†PKD2=gene that encodes polycystin 2 (PC2), a nonselective cation channel located on the cilia and endoplasmic reticulum of the renal tubule epithelium.2,7
Prevalence of ADPKD
ADPKD is the most common life-threatening genetic disorder, with an estimated prevalence of ~141,000 diagnosed cases in the United States in 2017.8-10
- The most common inherited cystic renal disease
- The most common single-gene disorder of the kidneys
- The fourth most common overall cause of ESRD in the United States
Stages of Chronic Kidney Disease13
National Kidney Foundation Classification of Chronic Kidney Disease13‡
|Kidney damage with normal or elevated GFR||≥90|
|Kidney damage with mildly decreased GFR||89-60|
|Moderately decreased GFR||59-30|
|Severely decreased GFR||29-15|
|Kidney failure||<15 (or dialysis)|
‡Chronic kidney disease is defined as either kidney damage or a glomerular filtration rate (GFR) below 60 mL per minute per 1.73 m2 for 3 months or more. Kidney damage is defined as pathologic abnormalities or markers of damage, including abnormalities in blood or urine tests or imaging studies.
Patel V, Chowdhury R, Igarashi P. Advances in the pathogenesis and treatment of polycystic kidney disease. Curr Opin Nephrol Hypertens. 2009;18(2):99-106. doi:10.1097/MNH.0b013e3283262ab0
Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Taal MW, Chertow GM, Mardsen PA, Skorecki K, Yu ASL, Brenner BM, eds. Brenner & Rector’s The Kidney. Philadelphia, PA: Elsevier Saunders; 2012:1626-1667.
Harris PC. Rossetti S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol. 2010;6(4):197-206.
Grantham JJ, Mulamalla S, Swenson-Fields KI. Why kidneys fail in autosomal dominant polycystic kidney disease. Nat Rev Nephrol. 2011;7(10):556-566.
Grantham JJ, Torres VE. The importance of total kidney volume in evaluating progression of polycystic kidney disease. Nat Rev Nephrol. 2016;12(11):667-677.
Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med. 2009;60:321-337.
Kathem SH, Mohieldin AM, Nauli SM. The roles of primary cilia in polycystic kidney disease. AIMS Mol Sci. 2014;1(1):27-46. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296740.
Perrone RD, Ruthazer R. Terrin NC. Survival after end-stage renal disease in autosomal dominant polycystic kidney disease: contribution of extrarenal complications to mortality. Am J Kidney Dis. 2001;38(4):777-784.
Schrier RW. Randomized intervention studies in human polycystic kidney and liver disease. J Am Soc Nephrol. 2010;21(6):891-893.
Data on file. 004. Otsuka America Pharmaceutical, Inc.
Lentine KL, Xiao H, Machnicki G, Gheorghian A, Schnitzer MA. Renal function and healthcare costs in patients with polycystic kidney disease. Clin J Am Soc Nephrol. 2010;5(8):1471-1479.
United States Renal Data System. 2016 USRDS Annual Data Report: Epidemiology of Kidney Disease in the United States. Bethesda, MD: National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases; 2016.
Johnson CA, Levey AS, Coresh J, Levin A, Lau J, Eknoyan G. Clinical practice guidelines for chronic kidney disease in adults: part I: definition, disease stages, evaluation, treatment, and risk factors. Am Fam Physician. 2004;70(5):869-876.