Page created on February 20, 2019. Last updated on April 27, 2019 at 14:41
Organ: Kidneys
Description:
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
Causes:
- Autosomal recessive mutation in PKHD1 gene
Theory:
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.
Szia, Nik
PKHD1 gene, not PKDH1
Fixed. Thanks.