19. Polycystic kidney (infantile sponge kidney)

Page created on February 20, 2019. Last updated on April 27, 2019 at 14:41

Organ: Kidneys


The kidneys contain many very small cysts, only a few (1-2) mm in diameter. They look like holes left after being stabbed with a small needle.

Diagnosis: Autosomal recessive polycystic kidney disease


  • Autosomal recessive mutation in PKHD1 gene


Autosomal recessive polycystic kidney disease causes renal failure very soon after birth. Patients with this disease also develop liver failure relatively soon due to the presence of many cysts in the liver too.

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