Glomerulocystic kidney disease

Division of Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, MLC 7022, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.
Pediatric Nephrology (Impact Factor: 2.86). 10/2010; 25(10):2049-56; quiz 2056-9. DOI: 10.1007/s00467-009-1416-2
Source: PubMed


Glomerulocystic disease is a rare renal cystic disease with a long descriptive history. Findings from recent studies have significantly advanced the pathophysiological understanding of the disease processes leading to this peculiar phenotype. Many genetic syndromes associated with glomerulocystic disease have had their respective proteins localized to primary cilia or centrosomes. Transcriptional control of renal developmental pathways is dysregulated in obstructive diseases that also lead to glomerulocystic disease, emphasizing the importance of transcriptional choreography between renal development and renal cystic disease.

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Available from: John J Bissler
    • "Inactivation of the tuberin–hamartin complex is thought to result in ciliary dysfunction and defects in cell polarity leading to cyst formation.[67] In patients with TSC, cysts may arise from all segments of the nephron, including the renal tubules and the glomeruli.[6869] Animal models demonstrate acute acceleration of renal cystic disease following acute renal injury, which may also be the case in humans[70] [Figure 8a]. "
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