Polycystic kidney disease pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2], Serge Korjian, Yazan Daaboul

Overview

The pathogenesis of ADPKD is related to the protein products of the PKD1 and PKD2 genes known collectively as polycystins. These proteins are primarily involved in ciliary function in the renal tubular cells and defects in their function leads to intracellular cAMP accumulation and mTOR overactivity causing cell proliferation, fluid secretion, and abnormal extracellular matrix and intercellular interactions the main processes that lead to cyst formation.

Pathophysiology

Pathogenesis

Genetics

Associated Conditions

Conditions associated with autosomal dominant polycystic kidney disease (ADPKD):

Conditions associated with autosomal recessive polycystic kidney disease (ARPKD):

Gross Pathology

Microscopic Pathology

  • On microscopic histopathological analysis, interstitial fibrosis, tubular atrophy, thickening and lamellation of tubular basement membranes, microcysts and negative immunofluorescence for complement and immunoglobulin are characteristic findings of ADPKD.[33][34][35][36]

References

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