| Diagnosis and screening of autosomal dominant polycystic kidney disease. | |
| | |
MedLine Citation:
|
PMID: 20219617 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney failure and accounts for approximately 5% of ESRD population in the United States. The disorder is characterized by the focal and sporadic development of renal cysts, which increase in size and number with age. Mutations of PKD1 and PKD2 account for most of the cases. Although the clinical manifestations of both gene types overlap completely, PKD1 is associated with more severe disease than PKD2, with larger kidneys and earlier onset of ESRD. In general, renal ultrasonography is commonly used for the diagnosis of ADPKD, and age-dependent criteria have been defined for subjects at risk of PKD1. However, the utility of the PKD1 ultrasound criteria in the clinic setting is unclear because their performance characteristics have not been defined for the milder PKD2 and the gene type for most test subjects is unknown. Recently, highly predictive ultrasound diagnostic criteria have been derived for at-risk subjects of unknown gene type. Additionally, both DNA linkage or gene-based direct sequencing are now available for the diagnosis of ADPKD, especially in subjects with equivocal imaging results, subjects with a negative or indeterminate family history, or in younger at-risk individuals being evaluated as potential living-related kidney donors. Here, we review the clinical utilities and limitations of both imaging- and molecular-based diagnostic tests and outline our approach for the evaluation of individuals suspected to have ADPKD. |
| | |
Authors:
|
York Pei; Terry Watnick |
Related Documents
:
|
10381667 - Clinical and genetic heterogeneity in autosomal dominant cataract. 3352637 - Dominant cataract and recessive specific-locus mutations detected in offspring of proca... 15727257 - Evidence for association of endothelial cell nitric oxide synthase gene polymorphism wi... 20664687 - Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with suscep... 19840267 - An aflp clock for absolute dating of shallow-time evolutionary history--too good to be ... 17248607 - Genetics of heading time in wheat (triticum aestivum l.). i. the inheritance of photope... |
Publication Detail:
|
Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
|
Title: Advances in chronic kidney disease Volume: 17 ISSN: 1548-5609 ISO Abbreviation: Adv Chronic Kidney Dis Publication Date: 2010 Mar |
Date Detail:
|
Created Date: 2010-03-11 Completed Date: 2010-06-07 Revised Date: 2011-09-26 |
Medline Journal Info:
|
Nlm Unique ID: 101209214 Medline TA: Adv Chronic Kidney Dis Country: United States |
Other Details:
|
Languages: eng Pagination: 140-52 Citation Subset: IM |
Copyright Information:
|
2010 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved. |
Affiliation:
|
University Health Network and University of Toronto, Ontario, Canada. york.pei@uhn.on.ca |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Diagnosis, Differential Genetic Testing* Humans Mass Screening* Polycystic Kidney, Autosomal Dominant / diagnosis*, epidemiology, genetics* Risk Factors |
| Grant Support | |
ID/Acronym/Agency:
|
MOP 77806//Canadian Institutes of Health Research; R01 DK076017-04/DK/NIDDK NIH HHS; R01 GM073704-03/GM/NIGMS NIH HHS; R01DK70617/DK/NIDDK NIH HHS; R01GM073704/GM/NIGMS NIH HHS |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Determinants of renal disease variability in ADPKD.
Next Document: Hypertension in autosomal dominant polycystic kidney disease.