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. 2020 Jul 23;2020:1635413. doi: 10.1155/2020/1635413

Table 2.

Systematic review of clinical features and laboratory findings of GS patients with KLHL3 gene mutations.

ID Mutation Age (years) Sex BP K+ pH HCO3 PRA PAC
Kelly et al. [2] H498Y 18 M 150/90 7.3 7.34 18 0.2 19.1

Mitani et al. [3] L387P 3 M 110/55 6.6 7.34 14.8 0.6 6.6

Park et al. [4] C164F 0.8 F 115/72 6.3 7.34 19.6 <0.1 6.4
S433N 1.7 F 110/73 6.9 7.30 12 <0.1 7.1
S433N 23 F Hypertension 6.4 NA NA NA NA

Mayan et al. [5] Q309R 69 F 115/78 5.4 NA 27 2.3 10.6
Q309R 48 F 147/95 5.2 NA 25.7 0.1 4.1
Q309R 11 M 104/61 6.4 NA 22.3 0.1 23.8
Q309R 11 M 108/71 7.2 NA 21.5 0.1 14.0
Q309R 10 F 103/72 5.3 NA 22.7 0.7 23.9
R528H 38 F 154/77 5.6 NA 18 3.6 51.5
R528H 15 F 136/77 6.0 NA 19.7 0.3 4.1
R528H 13 F 124/77 6.2 NA 19.8 <0.3 14.8
R528H 8 F 123/78 5.8 NA 19.1 0.7 10.7
R528H 2 M 146/95 7.0 NA NA 0.3 28.3

Kliuk et al. [6] S553L 34 F 158/107 6.2 NA NA <0.5 15.5
S553L 26 M 115/70 7.1 NA NA <0.5 6.5
Q309R 63 M 110/80 5.6 NA 19.0 1.4 4.5
Q309R 62 F 160/100 4.8 NA 23.6 1.7 8
Q309R 57 M 120/90 5.1 NA 19.7 NA 16.7
Q309R 54 M 145/105 6.4 NA 23.1 4.7 24.6
Q309R 47 F 120/90 5.1 NA 23.8 2.5 21.8
Q309R 47 F 145/110 5.1 NA 19.5 <1.0 NA
Q309R 44 M 160/100 NA NA NA NA NA
Q309R 18 M 110/70 5.2 NA 23.9 <0.5 NA
Q309R 15 F 110/80 5.8 NA 20.2 <0.5 NA
Q309R 12 F 114/76 5.3 NA 22 NA NA

Present case S433N 24 F 150/109 6.3 7.286 17.6 0.14 31.0