ADPKD is inherited as an autosomal dominant trait in families. This means that if one parent has the disease, there is a 50-percent chance that the disease will pass to a child of either gender. In this form, one out of a person's two copies of the PKD1 or PKD2 gene must be altered in order for the person to develop ADPKD. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from new mutations in one of the genes and occur in people with no history of the disorder in their family.
Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other, as yet unidentified, genes.
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My grandfather just recently found out he has polycystic kidney disease, and I am curious to know if I have it also. I am 20 years old and have experienced some symptoms. What is the best way to go about testing for this condition? What kinds of tests do they run? See answer
I inherited autosomal dominant polycystic kidney disease (ADPKD) from my mother. Over the past two years I have had two CT scans which show that the condition has not changed. One side of my kidney is very large and I am currently taking medicine for high blood pressure. I am worried because I have three children. What can I do to manage my condition? See answer
I am curious if my fiance who has inherited polycystic disease from his mother will follow her patterns and symptoms that she has faced with this disease. In autosomal dominant polycystic kidney disease (ADPKD), do the symptoms and severity of symptoms tend to be the same among affected family members (e.g., would a mother and her son with ADPKD be similarly affected)? See answer
My brother was been recently diagnosed with autosomal dominant polycystic kidney disease (ADPKD). I am interested in testing to determine if I will go on to develop symptoms in the future. What are symptoms of ADPKD? How is it diagnosed? What influences the age at which symptoms begin to appear? See answer