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