Polycystic kidney disease interventions
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Differentiating Polycystic kidney disease from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Definitive diagnosis using genetic testing is only possible in around half of the patients with a clinical diagnosis of ADPKD. Given the cost and low sensitivity, genetic testing is reserved for specific cases and is not a preferred method of diagnosis.
Genetic Testing
Although both causative gene loci for ADPKD have been defined, genetic diagnosis is not the preferred modality due to its elevated cost and low sensitivity. Despite being feasible, the various type of mutations including frame insertions/deletions, non-canonical splice site alterations, or combined missense changes often make the identification of pathogenic mutations very complex. Futhermore, definitive disease-causing mutations are usually detected in only 41 to 63% of cases approximately. [1][2]
References
- ↑ Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK; et al. (2007). "Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease". Mol Genet Metab. 92 (1–2): 160–7. doi:10.1016/j.ymgme.2007.05.004. PMC 2085355. PMID 17574468.
- ↑ Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ; et al. (2007). "Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease". J Am Soc Nephrol. 18 (7): 2143–60. doi:10.1681/ASN.2006121387. PMID 17582161.