Polycystic Kidney Disease Causes (Cont.)

Autosomal Recessive Polycystic Kidney Disease Causes

The cause of autosomal recessive polycystic kidney disease is a mutation in the PKHD1 gene, located on chromosome number 6. Although the function of this gene is not yet known, it is likely that the protein made by the gene transmits chemical signals from outside the cell to the cell nucleus. Polycystic kidney disease research scientists 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.
 
When autosomal recessive polycystic kidney disease is inherited, it means that an affected person must inherit two altered copies of the PKHD1 gene to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the altered gene.
 

Polycystic Kidney Disease Causes: Acquired Cystic Kidney Disease

Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. These nonhereditary 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 dialysis (a procedure that filters the blood in people with kidney failure).
 

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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD