How Is PKD Inherited?

Polycystic kidney disease, or PKD, is a common, inherited genetic disease in which large cysts develop in the kidneys, resulting in the loss of normal function in kidney tissue. This loss of normal tissue can lead to kidney failure. Normally functioning kidneys are essential for health.

Abnormal genes

• PKD has been linked to mutated genes

  Mutations in the genes PKD1, PKD2 and PKHD1 are linked to PKD. It is thought that only PKD1 or PKD2 need to be mutated in a person for him or her to develop PKD.

Autosomal Dominant

• There are two copies of each gene in every cell. Genes produce proteins. Autosomal dominance means that only one copy of the gene needs to be mutated or abnormal in order for disease to develop. Genes are inherited from parents. Thus if one parent has a mutated gene, there is a one in two chance of a child developing PKD.

Autosomal Recessive

• Individuals who have autosomal recessive PKD often have abnormal kidneys before they are born. They also have other medical problems. Autosomal recessive PKD requires a faulty gene to be obtained from both parents. Therefore, an individual with one faulty gene will be a carrier for PKD but will show no clinical signs. One gene to date, PKHD1, has been associated with autosomal recessive PKD.

Spontaneous Mutation

• Ten percent of cases of PKD have no family connection. The mutation can occur spontaneously.