Congenital/Aquired kidney anomolies

Adult Polycystic Kidney

Hepatic cysts are most common co-manifestations along with Hypertension and miral valve prolapse and flank pain & hematuria

Death is common (10%) from a berry aneurysism

PKD 1 gene (Polycystin 1)

ADult or (Autosomal Dominant)

Bilateral Presentation in 4,5,6th decade

Cysts are found in Corticomedullary area

Juvenile Polycyctic Kidney ARPKD

Autosomal Recessive (PKHD 2) Chromosome 6

Defect in the gene that codes for Fibrocystin
Results in Dilated collecting ducts (spongelike)

Clinical subtype depends upon % of collecting duct involment.

Perinatal lethal is the most common
Associated with portal hypertension

Adult onset Medullary

Present with Salt wasting, polyuria

Cysts are at the corticomedullary Junction

Most common genetic cause of end-stage kidney disease in children and young adults

Familial Juvenile Nephronopthisis

Autosomal recessive with 3 genes (NPH1,NPH2 &NPH3)

Corticomedullary Junction cysts

Most common genetic cause of end-stage kidney disease in children and young adults

Acquired (dialysis-associated) cysts

Cortical and medullary location
Numerous; filled with clear fluid

Associated with development of renal cell carcinoma – occurring in 7% of patients dialyzed for 10 years or more