Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic

BMC Nephrology

Volumn 13, Issue 1, 2012, Pages

  Robinson, Caroline ^a   Hiemstra, Thomas F ^a,b   Spencer, Deborah ^b   Waller, Sarah ^c   Daboo, Laura ^c   Karet Frankl, Fiona E ^a,b   Sandford, Richard N ^a,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE; ARTICLE; CHRONIC KIDNEY DISEASE; COHORT ANALYSIS; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OUTPATIENT DEPARTMENT; PKD2 GENE; PROGNOSIS;

ADULT; AGED; AMBULATORY CARE FACILITIES; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GREAT BRITAIN; HUMANS; MALE; MIDDLE AGED; MUTATION; NEPHROLOGY; POLYCYSTIC KIDNEY DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; RISK FACTORS; TRPP CATION CHANNELS; YOUNG ADULT;

EID: 84864496315     PISSN: None     EISSN: 14712369     Source Type: Journal    
DOI: 10.1186/1471-2369-13-79     Document Type: Article

References (29)

1. Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. Paterson AD, Magistroni R, He N, Wang K, Johnson A, Fain PR, Dicks E, Parfrey P, St George-Hyslop P, Pei Y, J Am Soc Nephrol 2005 16 3 755 762 10.1681/ASN.2004090758 15677307 (Pubitemid 41725112)
2. Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease. Johnson AM, Gabow PA, J Am Soc Nephrol 1997 8 10 1560 1567 9335384 (Pubitemid 27496474)
3. Treatment strategies and clinical trial design in ADPKD. Torres VE, Adv Chronic Kidney Dis 2010 17 2 190 204 10.1053/j.ackd.2010.01.006 20219622
4. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Boucher C, Sandford R, Eur J Hum Genet 2004 12 5 347 354 10.1038/sj.ejhg.5201162 14872199 (Pubitemid 38660184)
5. Genetic Heterogeneity of polycystic Kidney disease in Europe. Peters DJM, Sandkuijl LA, Contib Nephrol 1992 97 128 139
6. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. Torra R, Badenas C, Perez-Oller L, Luis J, Millan S, Nicolau C, Oppenheimer F, Mila M, Darnell A, Am J Kidney Dis 2000 36 4 728 734 10.1053/ajkd.2000.17619 11007674
7. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Hateboer N, Dijk MA V, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, Torra R, Breuning M, Ravine D, Lancet 1999 353 9147 103 107 10.1016/S0140-6736(98)03495-3 10023895 (Pubitemid 29088079)
8. Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. Torra R, Badenas C, Darnell A, Nicolau C, Volpini V, Revert L, Estivill X, J Am Soc Nephrol 1996 7 10 2142 2151 8915974 (Pubitemid 27468243)
9. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. Rossetti S, Harris PC, J Am Soc Nephrol 2007 18 5 1374 1380 10.1681/ASN.2007010125 17429049 (Pubitemid 46717503)
10. Potentially modifiable factors affecting the progression of autosomal dominant polycystic kidney disease. Torres VE, Grantham JJ, Chapman AB, Mrug M, Bae KT, King BF Jr, Wetzel LH, Martin D, Lockhart ME, Bennett WM, et al. Clin J Am Soc Nephrol 2011 6 3 640 647 10.2215/CJN.03250410 21088290
11. Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort. Chapman AB, Guay-Woodford LM, Grantham JJ, Torres VE, Bae KT, Baumgarten DA, Kenney PJ, King BF Jr, Glockner JF, Wetzel LH, et al. Kidney Int 2003 64 3 1035 1045 10.1046/j.1523-1755.2003.00185.x 12911554 (Pubitemid 37013840)
12. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, et al. J Am Soc Nephrol 2007 18 7 2143 2160 10.1681/ASN.2006121387 17582161 (Pubitemid 47041080)
13. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). Hoefele J, Mayer K, Scholz M, Klein HG, Nephrol Dial Transplant 2010 26 7 2181 2188 21115670
14. Unified criteria for ultrasonographic diagnosis of ADPKD. Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, et al. J Am Soc Nephrol 2009 20 1 205 212 10.1681/ASN.2008050507 18945943
15. Analysis of serial measurements in medical research. Matthews JN, Altman DG, Campbell MJ, Royston P, BMJ 1990 300 6719 230 235 10.1136/bmj.300.6719.230 2106931 (Pubitemid 20045528)
16. Proportional hazards tests and diagnostics based on weighted residuals. Grambsch P, Therneau T, Biometrika 1994 81 3 515 526 10.1093/biomet/81.3.515
17. A general definition of residuals (with discussion). Cox D, Snell EJ, J Royal Stat Soc 1968 B30 248 275
18. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, et al. J Am Soc Nephrol 2003 14 5 1164 1174 10.1097/01.ASN.0000061774.90975.25 12707387 (Pubitemid 36514659)
19. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. Vujic M, Heyer CM, Ars E, Hopp K, Markoff A, Orndal C, Rudenhed B, Nasr SH, Torres VE, Torra R, et al. J Am Soc Nephrol 2010 21 7 1097 1102 10.1681/ASN.2009101070 20558538
20. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Rossetti S, Kubly VJ, Consugar MB, Hopp K, Roy S, Horsley SW, Chauveau D, Rees L, Barratt TM, van't Hoff WG, Kidney Int 2009 75 8 848 855 10.1038/ki.2008.686 19165178
21. Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Pei Y, Paterson AD, Wang KR, He N, Hefferton D, Watnick T, Germino GG, Parfrey P, Somlo S, St George-Hyslop P, Am J Hum Genet 2001 68 2 355 363 10.1086/318188 11156533 (Pubitemid 32147805)
22. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK, Lan Z, Allen E, Qian F, Lens XM, et al. Mol Genet Metab 2007 92 1-2 160 167 17574468 (Pubitemid 47371099)
23. Volume progression in polycystic kidney disease. Grantham JJ, Torres VE, Chapman AB, Guay-Woodford LM, Bae KT, King BF Jr, Wetzel LH, Baumgarten DA, Kenney PJ, Harris PC, et al. N Engl J Med 2006 354 20 2122 2130 10.1056/NEJMoa054341 16707749 (Pubitemid 43736612)
24. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. Harris PC, Bae KT, Rossetti S, Torres VE, Grantham JJ, Chapman AB, Guay-Woodford LM, King BF, Wetzel LH, Baumgarten DA, et al. J Am Soc Nephrol 2006 17 11 3013 3019 10.1681/ASN.2006080835 17035604 (Pubitemid 44707761)
25. Family history of renal disease severity predicts the mutated gene in ADPKD. Barua M, Cil O, Paterson AD, Wang K, He N, Dicks E, Parfrey P, Pei Y, J Am Soc Nephrol 2009 20 8 1833 1838 10.1681/ASN.2009020162 19443633
26. Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Rossetti S, Chauveau D, Kubly V, Slezak JM, Saggar-Malik AK, Pei Y, Ong AC, Stewart F, Watson ML, Bergstralh EJ, et al. Lancet 2003 361 9376 2196 2201 10.1016/S0140-6736(03)13773-7 12842373 (Pubitemid 36782553)
27. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, et al. Am J Hum Genet 1997 61 3 547 555 10.1086/515497 9326320 (Pubitemid 27418396)
28. Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations. Zhao X, Paterson AD, Zahirieh A, He N, Wang K, Pei Y, Clin J Am Soc Nephrol 2008 3 1 146 152 10.2215/CJN.03430807 18077784
29. The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease. Rossetti S, Burton S, Strmecki L, Pond GR, San Millan JL, Zerres K, Barratt TM, Ozen S, Torres VE, Bergstralh EJ, et al. J Am Soc Nephrol 2002 13 5 1230 1237 10.1097/01.ASN.0000013300.11876.37 11961010 (Pubitemid 34441403)