Polycystic Kidney Disease: An Examination and Review of Disease Type, Presentation, Treatment, and Prognosis

Polycystic Kidney Disease (PKD) is a ciliopathy that primarily presents as renal cysts. Inherited as either a dominant (ADPKD) or recessive (ARPKD) mutation, PKD is one of the most commonly inherited kidney diseases. ADPKD is caused by the inheritance of a mutation in either PKD1 or PKD2, which code for the polycystin-1 and -2 proteins, respectively. The less severe form of PKD, ADPKD is typically adult-onset, with the possibility of extremely late-stage presentation. In addition to renal cysts, hepatic and pancreatic cysts are common, as well as other non-cystic symptoms including headache and hypertension. ARPKD is caused by the inheritance of a PKHD1 or DZIP1L, which encode fibrocystin and DZIP1L, respectively. ARPKD is typically onset in either fetal development or during the perinatal stage. ARPKD is the more severe form of PKD, with a 30% mortality rate of neonatal diagnoses. Additional presentations of ARPKD include enlarged kidneys visible in utero by sonogram, liver fibrosis, pulmonary hypoplasia, and abnormalities of the limbs and spine. Multiple treatments exist to manage this condition including drug therapies such as Tolvaptan, as well as renal replacement in the form of dialysis and eventual kidney transplant