Kim et al.1111 Kim H, Kim HH, Chang CL, Song SH, Kim N. Novel PKD1 mutations in patients with autosomal dominant polycystic kidney disease. Lab Med. 2021;52(2):174-80. https://doi.org/10.1093/labmed/lmaa047 https://doi.org/10.1093/labmed/lmaa047...
|
542 |
81.4 |
348 (82.3%) |
75 (17.7%) |
Audrézet et al.1212 Audrézet MP, Corbiere C, Lebbah S, Morinière V, Broux F, Louillet F, et al. Comprehensive PKD1 and PKD2 mutation analysis in prenatal autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2016;27(3):722-9. https://doi.org/10.1681/ASN.2014101051 https://doi.org/10.1681/ASN.2014101051...
|
42 |
90.4 |
36 (94.7%) |
2 (5.3%) |
Kinoshita et al.1313 Kinoshita M, Higashihara E, Kawano H, Higashiyama R, Koga D, Fukui T, et al. Technical evaluation: identification of pathogenic mutations in PKD1 and PKD2 in patients with autosomal dominant polycystic kidney disease by next-generation sequencing and use of a comprehensive new classification system. PLoS One. 2016;11(11):e0166288. https://doi.org/10.1371/journal.pone.0166288 https://doi.org/10.1371/journal.pone.016...
|
101 |
89.1 |
82 (87.2%) |
12 (12.8%) |
Tutal et al.1414 Tutal O, Gulhan B, Atayar E, Yuksel S, Ozcakar ZB, Soylemezoglu O, et al. The clinical and mutational spectrum of 69 turkish children with autosomal recessive or autosomal dominant polycystic kidney disease: a multicenter retrospective cohort study. Nephron. 2023. https://doi.org/10.1159/000528258 https://doi.org/10.1159/000528258...
|
69 |
66.6 |
40 (86.9%) |
6 (13.1%) |
Kasap Demir et al.1515 Kasap Demir B, Mutlubaş F, Soyaltın E, Alparslan C, Arya M, Alaygut D, et al. Demographic and clinical characteristics of children with autosomal dominant polycystic kidney disease: a single center experience. Turk J Med Sci. 2021;51(2):772-7. https://doi.org/10.3906/sag-2009-79 https://doi.org/10.3906/sag-2009-79...
|
29 |
75.8 |
22 (95.4%) |
1 (4.6%) |
Reed et al.1818 Reed B, McFann K, Kimberling WJ, Pei Y, Gabow PA, Christopher K, et al. Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history. Am J Kidney Dis. 2008;52(6):1042-50. https://doi.org/10.1053/j.ajkd.2008.05.015 https://doi.org/10.1053/j.ajkd.2008.05.0...
|
24 |
58 |
12 (85.7%) |
2 (14.3%) |
Audrézet et al.1919 Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012;33(8):1239-50. https://doi.org/10.1002/humu.22103 https://doi.org/10.1002/humu.22103...
|
519 |
91.6 |
392 (80.5%) |
95 (19.5%) |
Carrera et al.2020 Carrera P, Calzavara S, Magistroni R, Dunnen JT, Rigo F, Stenirri S, et al. Deciphering variability of PKD1 and PKD2 in an Italian cohort of 643 patients with autosomal dominant polycystic kidney disease (ADPKD). Sci Rep. 2016;6:30850. https://doi.org/10.1038/srep30850 https://doi.org/10.1038/srep30850...
|
440 |
80 |
301 (85.5%) |
51 (14.5%) |
Eo et al.2121 Eo HS, Lee JG, Ahn C, Cho JT, Hwang DY, Hwang YH, et al. Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. Clin Genet. 2002;62(2):169-74. https://doi.org/10.1034/j.1399-0004.2002.620211.x https://doi.org/10.1034/j.1399-0004.2002...
|
188 |
84.5 |
131 (69.7%) |
57 (30.3%) |
Hoefele et al.2222 Hoefele J, Mayer K, Scholz M, Klein HG. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). Nephrol Dial Transplant. 2011;26(7):2181-8. https://doi.org/10.1093/ndt/gfq720 https://doi.org/10.1093/ndt/gfq720...
|
93 |
64.5 |
52 (86.7%) |
8 (13.3%) |
Heyer et al.2323 Heyer CM, Sundsbak JL, Abebe KZ, Chapman AB, Torres VE, Grantham JJ, et al. Predicted mutation strength of nontruncating PKD1 mutations aids genotype-phenotype correlations in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2016;27(9):2872-84. https://doi.org/10.1681/ASN.2015050583 https://doi.org/10.1681/ASN.2015050583...
|
1,119 |
92.4 |
869 (77.7%) |
165 (14.7%) |
Rossetti et al.2424 Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18(7):2143-60. https://doi.org/10.1681/ASN.2006121387 https://doi.org/10.1681/ASN.2006121387...
|
202 |
89.1 |
153 (85.0%) |
27 (15.0%) |
Xu et al.2525 Xu D, Ma Y, Gu X, Bian R, Lu Y, Xing X, et al. Novel mutations in the PKD1 and PKD2 genes of chinese patients with autosomal dominant polycystic kidney disease. Kidney Blood Press Res. 2018;43(2):297-309. https://doi.org/10.1159/000487899 https://doi.org/10.1159/000487899...
|
120 |
81.7 |
85 (91.4%) |
8 (8.6%) |
This study |
28 |
71.4 |
12 (66.7%) |
8 (33.3%) |