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Table 4 Review of the characteristics of PHAII patients with KLHL3 gene mutations

From: A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism

Author Mutation Exon het/hom Pattern of inheritance Family history or not Age at diagnosis
(years)
Sex Serum
potassium
This study T110A 4 hom recessive sporadic 56 M 5.44
Yang [16] S433N 11 het dominant sporadic 23 F 6.3
Doan [17] A474V 11 het dominant sporadic 0.16 F 6.4
Kliuk-Ben Bassat [13] S553L 13 hom recessive pedigree 1 M 7.1
      34 F 6.2
Q309R 8 het dominant pedigree 63 M 5.6
      62 F 4.8
      57 M 5.1
      54 M 6.4
      47 F 5.1
      47 F 5.1
      44 M NA
      18 M 5.2
      15 F 5.8
      12 F 5.3
Mayan [12] Q309R 8 het dominant pedigree 69 F 5.4
      48 F 5.4
      11 M 6.4
      11 M 7.2
      10 F 5.3
R528H 13 het dominant pedigree 38 F 5.6
      15 F 6
      13 F 6.2
      8 F 5.8
      2 M 7
Park [11] C164F 4 het dominant sporadic 0.8 F 6.3
S433N 11 het dominant pedigree 1.7 F 6.9
S433N 11 het dominant pedigree 23 F 6.4
Mitani [14] L387P 9 het dominant sporadic 3 M 6.6
Kelly [15] H498Y 13 het dominant pedigree 18 M 7.3