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Medline ® Abstracts for References 3-7

of 'Patient education: Polycystic kidney disease (Beyond the Basics)'

3
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Autosomal dominant polycystic kidney disease.
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Torres VE, Harris PC, Pirson Y
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Lancet. 2007;369(9569):1287.
 
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation of its progression and systemic manifestations have laid out the foundation for the development of clinical trials and potentially effective treatments.
AD
Mayo Clinic College of Medicine, Rochester, MN 55905, USA. torres.vicente@mayo.edu
PMID
4
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Polycystic kidney disease.
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Wilson PD
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N Engl J Med. 2004;350(2):151.
 
AD
Department of Medicine, Division of Nephrology, Mount Sinai School of Medicine, New York, NY 10029, USA. pat.wilson@mssm.edu
PMID
5
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Unruptured intracranial aneurysms: natural history, clinical outcome, and risks of surgical and endovascular treatment.
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Wiebers DO, Whisnant JP, Huston J 3rd, Meissner I, Brown RD Jr, Piepgras DG, Forbes GS, Thielen K, Nichols D, O'Fallon WM, Peacock J, Jaeger L, Kassell NF, Kongable-Beckman GL, Torner JC, International Study of Unruptured Intracranial Aneurysms Investigators
SO
Lancet. 2003;362(9378):103.
 
BACKGROUND: The management of unruptured intracranial aneurysms is controversial. Investigators from the International Study of Unruptured Intracranial Aneurysms aimed to assess the natural history of unruptured intracranial aneurysms and to measure the risk associated with their repair.
METHODS: Centres in the USA, Canada, and Europe enrolled patients for prospective assessment of unruptured aneurysms. Investigators recorded the natural history in patients who did not have surgery, and assessed morbidity and mortality associated with repair of unruptured aneurysms by either open surgery or endovascular procedures.
FINDINGS: 4060 patients were assessed-1692 did not have aneurysmal repair, 1917 had open surgery, and 451 had endovascular procedures. 5-year cumulative rupture rates for patients who did not have a history of subarachnoid haemorrhage with aneurysms located in internal carotid artery, anterior communicating or anterior cerebral artery, or middle cerebral artery were 0%, 2. 6%, 14 5%, and 40% for aneurysms less than 7 mm, 7-12 mm, 13-24 mm, and 25 mm or greater, respectively, compared with rates of 2 5%, 14 5%, 18 4%, and 50%, respectively, for the same size categories involving posterior circulation and posterior communicating artery aneurysms. These rates were often equalled or exceeded by the risks associated with surgical or endovascular repair of comparable lesions. Patients' age was a strong predictor of surgical outcome, and the size and location of an aneurysm predict both surgical and endovascular outcomes.
INTERPRETATION: Many factors are involved in management of patients with unruptured intracranial aneurysms. Site, size, and group specific risks of the natural history should be compared with site, size, and age-specific risks of repair for each patient.
AD
KA-MZ, ISUIA Coordinating Center, Mayo Clinic, Rochester, MN 55905, USA. wiebers.david@mayo.edu<wiebers.david@mayo.edu>
PMID
6
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V2 receptor antagonists in cystic kidney diseases: an exciting step towards a practical treatment.
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Bennett WM
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J Am Soc Nephrol. 2005;16(4):838. Epub 2005 Feb 23.
 
AD
PMID
7
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Unified criteria for ultrasonographic diagnosis of ADPKD.
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Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D
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J Am Soc Nephrol. 2009;20(1):205. Epub 2008 Oct 22.
 
Individuals who are at risk for autosomal dominant polycystic kidney disease are often screened by ultrasound using diagnostic criteria derived from individuals with mutations in PKD1. Families with mutations in PKD2 typically have less severe disease, suggesting a potential need for different diagnostic criteria. In this study, 577 and 371 at-risk individuals from 58 PKD1 and 39 PKD2 families, respectively, were assessed by renal ultrasound and molecular genotyping. Using sensitivity data derived from genetically affected individuals and specificity data derived from genetically unaffected individuals, various diagnostic criteria were compared. In addition, data sets were created to simulate the PKD1 and PKD2 case mix expected in practice to evaluate the performance of diagnostic criteria for families of unknown genotype. The diagnostic criteria currently in use performed suboptimally for individuals with mutations in PKD2 as a result of reduced test sensitivity. In families of unknown genotype, the presence of three or more (unilateral or bilateral) renal cysts is sufficient for establishing the diagnosis in individuals aged 15 to 39 y, two or more cysts in each kidney is sufficient for individuals aged 40 to 59 y, and four or more cysts in each kidney is required for individuals>or = 60 yr. Conversely, fewer than two renal cysts in at-risk individuals aged>or = 40 yr is sufficient to exclude the disease. These unified diagnostic criteria will be useful for testing individuals who are at risk for autosomal dominant polycystic kidney disease in the usual clinical setting in which molecular genotyping is seldom performed.
AD
Division of Nephrology, University of Toronto, 8N838, 585 University Avenue, Toronto, Ontario, Canada. york.pei@uhn.on.ca
PMID