ORE CURRICULUM IN NEPHROLOGY Cystic and Inherited Kidney Diseases
نویسندگان
چکیده
● Mutations in the polycystic kidney disease (PKD)1 gene account for approximately 85% of affected families.3 ● The PKD1 gene is located on the short arm of chromosome 16 (16p.3.3). PKD1 codes for a 4,304-amino-acid protein (polycystin 1)2 with as yet undefined function but interacts with polycystin 2 and is involved in cell cycle regulation and intracellular calcium transport. Polycystin 1 localizes in the primary cilia of renal epithelial cells.4 ● Primary cilia function as mechanosensors where a calcium current is created by bending the cilium by luminal flow.4 ● Mutations in the PKD2 gene account for 15% of affected families.3 The PKD2 gene is located on chromosome 4 (4q.21.2).2 PKD2 codes for a 968-amino-acid protein (polycystin 2) structurally similar to polycystin 1 and is a member of the family of voltage-activated calcium channels.2 Polycystin 2 interacts with polycystin 1 and colocalizes to the primary cilia of renal epithelial cells.4 Few families are not linked to chromosome 16 nor 4. A third locus for ADPKD has been sought but not yet identified, suggesting only 2 genes are responsible for the disease.5 ● PKD1 and PKD2 mutations have different prognostic implications, with PKD2 pa-
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