Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Epidemiology and Etiology:

· Autosomal dominant

· high penetrance

· 5-10% of CRF requiring transplant

· Mutations in PKD1 (85%) and PKD2

· PDK1 on 16p13.3

· Polycystin-1

· Large integral membrane protein in tubular epithelial cells

· Precise function unknown

· PKD2 on 4q21

· Polycystin-2

· Integral membrane protein

· Regulation of internal calcium levels maybe

Common sites:

· Kidneys

· Liver (polycystic liver disease) (40%)

· Spleen

· Pancreas

· Lungs

· Intracranial (Berry aneurysms)

· Heart (MVP and other valvular anomalies) (20-25%)

Gross features:

· Universally bilateral

· May reach enormous size (up to 4kg per kidney)

· External surface appears entirely made up of a mass of cysts

· Clear to turbid red-brown fluid

· Occasionally papillary epithelial formations within cysts

Histologic features:

·

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

·

Other features:

· Renal function maintained until 30s or 40s

·

References:

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