ARPKD


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  • Clinical

    • bilateral large kidney result in pulmonary hypoplasia
    • hepatic fibrosis +/- biliary dysgenesis (Caroli disease)
    • if survives to childhood: portal hypertension, esophageal varices

  • Histology

    • collecting duct cysts
    • lining: single layer, cuboidal
    • normal nephrons
    • later: atrophy, interstitial fibrosis, glomerulosclerosis

  • Molecular

    • PKHD1, 6p12, fibrocystin in collecting duct cilia
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