Autosomal-recessive polycystic kidney disease

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Autosomal-recessive polycystic kidney disease Patrick S. Parfrey Kidney International Volume 67, Issue 4, Pages 1638-1648 (April 2005) DOI: 10.1111/j.1523-1755.2005.00246.x Copyright © 2005 International Society of Nephrology Terms and Conditions

Figure 1 The pedigree of the autosomal-recessive polycystic kidney disease (ARPKD) patient (PID 54) presented in this paper. Kidney International 2005 67, 1638-1648DOI: (10.1111/j.1523-1755.2005.00246.x) Copyright © 2005 International Society of Nephrology Terms and Conditions

Figure 2 Structure of polycystin 1, polycystin 2, and fibrocystin. (From Igarashi P, Somlo S: Genetics and pathogenesis of PKD. J Am Soc Nephrol 13:2384–2398, 2002, with permission.) Kidney International 2005 67, 1638-1648DOI: (10.1111/j.1523-1755.2005.00246.x) Copyright © 2005 International Society of Nephrology Terms and Conditions

Figure 3 Mechanism of fluid shear stress and calcium signaling in which cilia act as antennae to sense fluid movement. (From Nauli SM, et al: Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 33:129–137, 2003, with permission.) Kidney International 2005 67, 1638-1648DOI: (10.1111/j.1523-1755.2005.00246.x) Copyright © 2005 International Society of Nephrology Terms and Conditions

Figure 4 Epithelial cell tube formation. Madin-Darby canine kidney (MDCK) cultured cells in certain conditions form epithelial tubes. When suspended in collagen gel, MDCK cells aggregate and form a cyst. With the addition of hepatocyte growth factor, cells migrate away from the central cavity, forming solid cords of cells. (A) After an external cue triggers repolarization, cell surfaces in contact with the extracellular matrix accumulate basal markers, and cytoplasmic vesicles, carrying apical membrane components, target the developing apical surfaces. (B) The apical vesicles fuse, creating pockets of lumen at the apical surface. (C) Continued delivery of apical vesicles expands the lumen pockets, until they merge and form a complete lumen connected to the cyst cavity. (D) The lumen size is probably controlled by cilia. Defective ciliary function in ARPKD may cause cystic dilation of renal collecting tubules. (From Lubarsky B, Krasnow MA: Tube morphogenesis: Making and shaping biological tubes. Cell 112: 19–28, 2003, with permission.) Kidney International 2005 67, 1638-1648DOI: (10.1111/j.1523-1755.2005.00246.x) Copyright © 2005 International Society of Nephrology Terms and Conditions

Kidney International 2005 67, 1638-1648DOI: (10. 1111/j. 1523-1755 Kidney International 2005 67, 1638-1648DOI: (10.1111/j.1523-1755.2005.00246.x) Copyright © 2005 International Society of Nephrology Terms and Conditions