Genetic condition marked by the growth of numerous cysts in the kidneys. Cysts and kidneys enlarge, and kidneys progressively fail.

Autosomal dominant: Most common. Adult onset of symptoms (30-40yo).

Autosomal recessive: rare (1/20,000). Symptoms in childhood or in utero.

Demographics

• AD: 1/1000 people
• Equal effect on men and women, equal effect on ethnicities.
• Men progress to failure faster (unknown reason)

Aetiology

• altered PKD1 or PKD2 genes leading to abnormal epithelial differentiation and phenotypic expression -> cyst formation.
• PKD2 generally milder.
• 50/50 chance to inherit.
• 15% cases without family history (de novo mutations)

risk factors: parent/s with PCKD

pathophysiology

• abnormal epithelial differentiation and phenotypic expression -> cyst formation.