Autosomal Recessive Polycystic Kidney Disease

Epidemiology and Etiology:

· Autosomal recessive

· Perinatal and neonatal presentation usually

· Can present as infant or juvenile

· PKHD1 gene is associated

· 6p21-23

· Fibrocystin

· Integral membrane protein

· Function unknown

· Wide range of mutations

Common sites:

· Kidneys

· Liver

· cysts with portal fibrosis and proliferation of portal bile ducts (almost all cases)

· congenital hepatic fibrosis

Gross features:

· Enlarged kidneys

· Bilateral invariably

· Smooth external appearance

· Numerous small cysts in the cortex and medulla

·

Histologic features:

· Cylindrical or saccular dilation of all collecting tubules

· Uniform lining of cuboidal cells

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

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Other features:

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References:

· Kumar V, Fausto N, Abbas A. Robbins & Cotran Pathologic Basis of Disease, Seventh Edition. 7th ed. Saunders; 2004.