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, Oct 02, 2015
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    • "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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    ABSTRACT: Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville-Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.
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    ABSTRACT: Wnt signaling encompasses a variety of signaling cascades that can be activated by secreted Wnt ligands. Two such pathways, the canonical or beta-catenin pathway and the planar cell polarity (PCP) pathway, have recently received attention for their roles in multiple cellular processes within the kidney. Both of these pathways are important for kidney development as well as homeostasis and injury repair. The disruption of either pathway can lead to cystic kidney disease, a class of genetic diseases that includes the most common hereditary life-threatening syndrome polycystic kidney disease (PKD). Recent evidence implicates canonical and noncanonical Wnt pathways in cyst formation and points to a remarkable role for developmental processes in the adult kidney.
    Trends in Molecular Medicine 08/2010; 16(8):349-60. DOI:10.1016/j.molmed.2010.05.004 · 9.45 Impact Factor
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