Differences between ADPKD and ARPKD
Are ADPKD from ARPKD clinically distinguishable?
Besides their different inheritance pattern, ADPKD and ARPKD exhibit important clinical differences.
Despite cyst development starting in utero, ADPKD is typically an adult-onset disease. The disease is characterized by progressive bilateral cystic development and enlargement of the kidneys. GFR is preserved for many decades until it starts declining rapidly (4.4 to 5.9 mL/min/m 2 per year). The mean age of onset of ESKD is 59 years, but approximately 15% of patients present with normal kidney function by the age of 80 years. In a small number of patients, ADPKD may present as very-early-onset disease with kidney enlargement in children younger than 18 months of age. In this setting, ADPKD may be confused with ARPKD. Unlike ADPKD, ARPKD typically presents in the neonatal period with enlarged echogenic kidneys with loss of corticomedullary differentiation on ultrasound. Clinically, ARPKD presents with nephromegaly, hypertension, and CKD. The kidney enlargement is characterized by fusiform dilatation of the collecting ducts and may be associated with renal calcifications. More than 50% of them progress to ESKD within the first 10 years of life. Liver involvement is characterized by hepatomegaly and CHF.
