Srpski arhiv za celokupno lekarstvo 2008 Volume 136, Issue Suppl. 4, Pages: 348-352
https://doi.org/10.2298/SARH08S4348G
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Autosomal recessive polycystic kidney disease and complex nephronophtisis medullary cystic disease
Golubović Emilija (Children’s Hospital, Niš)
Reseach during the past decade has led to the discovery that defects in some
proteins that localize to primary cilia or the basal body are the main
contributors to renal cyst development. Autosomal recessive polycystic
disease and nephronophthisis-medullary cystic kidney disease are named
ciliopathies. The cilium is a microtubule-based organelle that is found on
most mammalian cells. Cilia-mediated hypothesis has evolved into the concept
of cystogenesis, cilia bend by fluid initiate a calcium influx that prevents
cyst formation. Cilia might sense stimuli in the cell enviroment and control
cell polarity and mitosis. A new set of pathogenic mechanisms in renal cystic
disease defined new therapeutic targets, control of intracellular calcium,
inhibition of cAMP and down regulation cannonical Wnt signaling.
Keywords: renal cystic disease, primary cilia, centrosome