Virtually all renal cystic illnesses
are monogenic diseases (Table 470-1). A recent unifying theory of their pathophysiology
suggests that all gene products (“cystoproteins”)
that are mutated in cystic kidney diseases are expressed in primary
cilia, basal bodies, or centrosomes.1-4 Primary cilia are
antennalike cellular organelles produced by virtually every epithelial
cell type in the body. The structure and function of primary cilia
and basal bodies is delineated in eFig. 470.1.5,6 They
are important for perceiving extracellular cues, including photosensation,
mechanosensation, osmosensation, and olfactory sensation. Cilia
are assembled from basal bodies, which represent one of the two
centrosomes. Centrosomes and basal bodies contain the same protein
complexes that are part of the mitotic spindle in mitosis. These
protein complexes are crucial for planar cell polarity, or the orientation
of epithelial cells in three-dimensional space. Disruption of their
function leads to cyst development and to extrarenal defects that
have been summarized under the term ciliopathies.
In general, it seems that the pathogenesis of ciliopathies is based
on an inability of epithelial cells to sense or process extracellular
Table 470-1. Cystic
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Table 470-1. Cystic
|Mode of Mutated|
|Multicystic Dysplastic Kidney (Cystic Dysplasia)||?||HNF1B/TCF2|
|Autosomal recessive polycystic kidney disease (ARPKD; OMIM
|Autosomal dominant polycystic kidney disease (ADPKD1 and
2; OMIM 601313, 173910)||AD||PKD1, PKD2|
|Tuberous sclerosis type 2 (TSC2; OMIM 191092)||AD||TSC2|
|Juvenile nephronophthisis type 1 (NPHP1; OMIM 256100) and ||AR||NPHP1 (~ 20%)|
|Types 4–9 (OMIM 606966, 609254, 610142, 608539, 610937,
609799)||NPHP4–NPHP9 ||(~ 2% each)|
|Infantile nephronophthisis type 2 (NPHP2; OMIM 243305)||AR||NPHP2/INVS|
|Adolescent nephronophthisis type 3 (NPHP3; OMIM 608002)||AR||NPHP3|
and Medullary Cystic Kidney Disease|
|Medullary cystic kidney disease type 1 (MCKD1; OMIM 174000)||AD||Unknown|
|Medullary cystic kidney disease type 2 (MCKD2; OMIM 603860)||AD||UMOD|
|Other Renal Cystic
|Glomerulocystic kidney disease GCKD (OMIM 137920, 609886)||AD||HNF1B/TCF2, UMOD |
|Medullary sponge kidney||?||Unknown|
|Renal Cystic Diseases
in Genetic Syndromes|
|Bardet-Biedl syndrome (OMIM 209900)||AR||BBS1-BBS12|
|Meckel-Gruber syndrome (OMIM 249000, 607361)||AR||MKS1, MKS3/TMEM67|
|NPHP3, 6, 8|
Subcellular localization of nephrocystins (light blue)
to subcellular organelles of the cilia/centrosome complex
(light pink), specifically to primary cilia, basal bodies, the mitotic
spindle, focal adhesions and adherens junctions, and functional
interaction with other proteins mutated in renal cystic diseases
(“ciliopathies”). Cystoproteins are
proteins of genes mutated in cystic kidney diseases. Depending on
cell cycle stage, cystoproteins are localized at different subcellular
organelles (shown in light gray),16,17 including primary
cilia, basal bodies, endoplasmic reticulum, the mitotic spindle,
centrosomes, adherens ...
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