Prevalence and Outcomes of PKD
Polycystic Kidney Disease (PKD) effects approximately 600,000 people in the United States and 4-6 million people worldwide. It is estimated that 1 person in 500 is affected by PKD.About 90% (540,000 people in the US) of PKD is the autosomal dominant type, which primarily effects adults. Those with ADPKD typically start developing symptoms by the time they reach their 40s. By age 60, 50% of ADPKD patients will require dialysis or renal transplant. There is not a treatment or cure to slow or stop the progression of the disease, which ultimately leads to End Stage Renal Disease (ESRD). Approximately 10% of patients with ESRD have PKD. Current treatment includes managing associated symptoms which can include high blood pressure, recurrent kidney and urinary tract infections, and flank pain.
PKD is an inherited disease, and those who carry the gene have a 50% chance of passing it down to their children. The genetic mutation for PKD can be found on two seperate genes in two different chromosomes. 90% of people with PKD have a mutation of the PKD 1 gene on the 16th chromosome and the remaining 10% have a mutation of the PKD2 gene on the 4th chromosome.
PKD1 Vs. PKD2 Genes
Although the presentation of the disease in patients afflicted with PKD1 or PKD2 is very similar, patients with the mutation on PKD2 have a milder form of the disease. The average life expectancy for patients with a PKD2 mutation is 68 years, whereas those with a PKD1 mutation have a life expectancy of 53 years.PKD1 and PKD2 encode for polycystin 1 and polycystin 2, respectively. Polycystin 1 and 2 are proteins that are present in nephrin, a protein that is an integral part of renal filtration. A mutation in either of these genes leads to dysfunction in the cells in the epithelial layer. The dysfunction could lead to increased proliferation, misaligned polarity, or an increase in aquaporins, allowing extra fluid into a cell.
Valen Keefer a patient who was diagnosed with PKD and went through years of dialysis and eventually a transplant, shares her story and more about PKD
Information from the NIH National Institute of Diabetes and Digestive and Kidney Diseases
http://kidney.niddk.nih.gov/KUDiseases/pubs/polycystic/#1
As well as
Moon C, Gunder L, Steele A. Adult polycystic kidney disease management. Clinical Advisor [serial online]. June 2011;14(6):37-46. Available from: CINAHL Plus with Full Text, Ipswich, MA. Accessed January 16, 2015.
Search terms: polycystic kidney disease and epidemiology
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