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: 2.88). 10/2010; 25(10):2049-56; quiz 2056-9. DOI: 10.1007/s00467-009-1416-2
Source: PubMed

ABSTRACT 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.

Download full-text


Available from: John J Bissler, Aug 10, 2015
  • [Show abstract] [Hide abstract]
    ABSTRACT: La malattia cistica del parenchima renale rappresenta un eterogeneo gruppo di malattie a carattere congenito, ereditario e non, e acquisito caratterizzate dalla presenza di formazioni cistiche. Il riscontro di formazioni cistiche renali è molto frequente nella pratica clinica quotidiana. Solo un’adeguata conoscenza degli aspetti anatomopatologici permette la giusta comprensione delle manifestazioni cliniche e la corretta interpretazione dei reperti radiologici. Compito della diagnostica per immagini è identificare e caratterizzare le lesioni cistiche renali e garantirne, se necessario, un adeguato follow-up. In questo capitolo sono descritte le principali forme di malattia cistica renale.
  • Source
    [Show abstract] [Hide abstract]
    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 · 10.11 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: A number of syndromic disorders have renal cysts as a component of their phenotypes. These disorders can generally be distinguished from autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) by imaging studies of their characteristic, predominantly non-renal associated abnormalities. Therefore, a major distinction in the differential diagnosis of enlarge echogenic kidneys is delineating ARPKD from ADPKD. ADPKD and ARPKD can be diagnosed by imaging the kidney with ultrasound, computed tomography, or magnetic resonance imaging (MRI), although ultrasound is still the method of choice for diagnosis in utero and in young children due to ease of use, cost, and safety. Differences in ultrasound characteristics, the presence or absence of associated extrarenal abnormalities, and the screening of the parents >40 years of age usually allow the clinician to make an accurate diagnosis. Early diagnosis of ADPKD and ARPKD affords the opportunity for maximal anticipatory care (i.e. blood pressure control) and in the not-too-distant future, the opportunity to benefit from new therapies currently being developed. If results are equivocal, genetic testing is available for both ARPKD and ADPKD. Specialized centers are now offering preimplantation genetic diagnosis and in vitro fertilization for parents who have previously had a child with ARPKD. For ADPKD patients, a number of therapeutic interventions are currently in clinical trial and may soon be available.
    Pediatric Nephrology 10/2010; 26(5):675-92. DOI:10.1007/s00467-010-1656-1 · 2.88 Impact Factor
Show more