Conditions / Genetic
polycystic kidney disease 5
info · Genetic
A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22.
Signs and symptoms
- Hyperechogenic kidneys
- Polycystic kidney dysplasia
- Hypertension
- Stage 5 chronic kidney disease
- Reduced renal corticomedullary differentiation
- Enlarged kidney
- Hepatosplenomegaly