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Table 1 Biochemical profiles and genetic variants of the Gitelman syndrome pedigree

From: Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes

   I-1 I-2 II-1 II-2 II-4 II-5 II-6 III-2 Normal
Age/sex 79 M 79F 55F 53 M 48F 47F 42 M 20 M  
Biochemistry profile
 Serum K (mmol/L) 3.94 4.19 4.35 4.01 3.08↓ 4.13 1.9–2.8↓↓ 4.02 3.5–5.5
 Serum Mg (mmol/L) 0.99 0.85 0.99 0.95 0.68↓ 0.97 0.71↓ 0.98 0.8–1.02
 Serum Ca (mmol/L) 2.36 2.31 2.47 2.37 2.5 2.32 2.48–2.6 2.42 2.1–2.52
 FEK (%) 6.56 6.33 5.56 8.12 12.66↑ 6.38 30.5–49.2↑↑ 5.08 8–12%
 uCa/Cr   0.29 0.30 0.34 0.19 0.03–0.07↓ 0.28 0.7↑ 0.33  
 FECa (%) 0.46 0.73 0.61 0.42 0.05–0.14↓ 0.51 2.66↑ 0.54  
 RAAS (lying condition)
  Renin (ng/mL/hr) 2.47 3.58 0.15–2.3
  Aldosterone (pg/mL) 79.53 123.72 30–160
  RAAS (standing condition)         
  Renin (ng/mL/hr) 9.36 > 13.56 0.1–6.5
  Aldosterone (pg/mL) 143.5 279.65 70–300
Genetic variants c.1077C > G c.433C > T
c.1666C > T
c.433C > T
c.1666C > T
c.433C > T
c.1666C > T
c.433C > T
c.1077C > G
c.1666C > T
c.433C > T
c.1666C > T
c.433C > T
c.1077C > G
c.1666C > T
c.1077C > G  
   p.Asn359Lys p.Arg145Cys
p.Pro556Ser
p.Arg145Cys
p.Pro556Ser
p.Arg145Cys
p.Pro556Ser
p.Arg145Cys
p.Asn359Lys
p.Pro556Ser
p.Arg145Cys
p.Pro556Ser
p.Arg145Cys
p.Asn359Lys
p.Pro556Ser
p.Asn359Lys