Mechanisms of Disease: Autosomal dominant and recessive polycystic kidney diseases

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Abstract

Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease are the best known of a large family of inherited diseases characterized by the development of renal cysts of tubular epithelial cell origin. Autosomal dominant and recessive polycystic kidney diseases have overlapping but distinct pathogeneses. Identification of the causative mutated genes and elucidation of the function of their encoded proteins is shedding new light on the mechanisms that underlie tubular epithelial cell differentiation. This review summarizes recent literature on the role of primary cilia, intracellular calcium homeostasis, and signaling involving Wnt, cyclic AMP and Ras/MAPK, in the pathogenesis of polycystic kidney disease. Improved understanding of pathogenesis and the availability of animal models orthologous to the human diseases provide an excellent opportunity for the development of pathophysiology-based therapies. Some of these have proven effective in preclinical studies, and clinical trials have begun.

Original languageEnglish (US)
Pages (from-to)40-55
Number of pages16
JournalNature Clinical Practice Nephrology
Volume2
Issue number1
DOIs
StatePublished - Jan 2006

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Keywords

  • β-catenin
  • Calcium
  • Cyclic AMP
  • MAPK
  • Polycystic kidney disease

ASJC Scopus subject areas

  • Nephrology

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