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Polycystic Kidney Disease Genetics
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There are three types of polycystic kidney disease:
Both autosomal dominant and autosomal recessive are inherited polycystic kidney disease types; acquired cystic kidney disease is not inherited, but associated with long-term kidney problems, dialysis, and old age.
Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease.
Mutations in the PKD1 and PKD2 genes cause autosomal dominant polycystic kidney disease. The functions of the proteins made by these genes are not fully understood, but they are involved in transmitting chemical signals from the outside of the cell to the cell's nucleus. Polycystic kidney disease research scientists believe that the two proteins work together to promote normal kidney development and function.
Mutations in the PKD1 or PKD2 gene lead to the formation of thousands of cysts, which disrupt the normal functions of the kidneys and other organs. People with mutations in the PKD2 gene typically have a less severe form of the disease than people with PKD1 mutations.
Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. Although the function of this gene is not yet known, it is likely that the protein made by the gene transmits chemical signals from the outside of the cell to the cell's nucleus. Researchers have not determined how mutations in the PKHD1 gene lead to the formation of numerous cysts, and result in the characteristic features of polycystic kidney disease.
A very small number of families with polycystic kidney disease do not have apparent mutations in any of the three known genes. An unidentified gene, or unidentified genes, may also be responsible for this disease.
Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. These nonhereditary (not inherited) cases are called acquired cystic kidney disease. This form of the disorder occurs most often in people who have long-term kidney damage, and in those who have been treated with hemodialysis (a procedure that filters the blood in people with kidney failure).
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