Autosomal Recessive Polycystic Kidney Disease

Overview
  • Autosomal Recessive Polycystic Kidney Disease (ARPKD) is an inherited disorder resulting in the development of multiple, characteristic cysts within the renal parenchyma.
Genetics
  • ARPKD is inherited in an autosomal recessive pattern and occurs due to mutations along the gene PKHD1 which is likely involved in cell-matrix interactions.
Morphology
  • Gross Appearance
    • The kidneys are saturated with small cysts less than 0.5 cm in diameter giving them a visibly spongey appearance.
  • Histological Appearance
    • The small cysts observed in ARPKD are derived from dilations of nephronic segments.
Clinical Consequences
  • The manifestation of ARPKD is highly variable in different patients. Frequently, patients due not survive long after birth. Children that do survive the perinatal period often succumb to chronic renal failure. Adults who survive their childhood develop a unique pattern of hepatic fibrosis that yields cirrhotic as a result of severe cystic disease within the liver.
Epidemiology
  • ARPKD is fortunately very rare and manifests early in life. Depending on the patient, symptomology manifests in neonates, infancy, or childhood.